A phenotype map of the mouse X chromosome: Models for human X-linked disease

Genome Research

Volumn 10, Issue 3, 2000, Pages 277-292

  Boyd, Yvonne ^a,b   Blair, Helen J ^a,c   Cunliffe, Pamela ^a,d   Masson, Walter K ^a,b   Reed, Vivienne ^a  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b INSTITUTE FOR ANIMAL HEALTH   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; BIGLYCAN; BINDING PROTEIN; BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 9; BOMBESIN RECEPTOR; GASTRIN RELEASING PEPTIDE; MYELIN; OXIDOREDUCTASE; PHOSPHORIBOSYLTRANSFERASE; PHOSPHORYLASE KINASE; PHOSPHOTRANSFERASE; STEROL; SYNAPTOBREVIN;

ANEMIA; ANIMAL CELL; CENTROMERE; CHROMOSOME MAP; CONGENITAL CATARACT; DYSPLASIA; EXPRESSED SEQUENCE TAG; FEMINIZATION; GENE FUNCTION; GENE LOCUS; GENE TARGETING; GENERAL ASPECTS OF DISEASE; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HYPOPHOSPHATEMIA; KNOCKOUT MOUSE; MOUSE; MUSCULAR DYSTROPHY; MUTANT; NONHUMAN; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; REVIEW; X CHROMOSOME; X CHROMOSOME LINKAGE;

ANIMALS; CHROMOSOME MAPPING; GENETIC DISEASES, INBORN; HUMANS; LINKAGE (GENETICS); MICE; PHENOTYPE; X CHROMOSOME;

ANIMALIA;

EID: 0034025453     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.10.3.277     Document Type: Review

References (168)

1. A lexander, C.M. and Z. Werb. 1992. Targeted disruption of the tissue inhibitor of metalloproteinases gene increases invasive behaviour of primitive mesenchymal cells derived from embryonic cells in vitro. J. Cell Biol. 118: 727-739.
2. Amar, L.C., L. Dandalo, A. Hanauer, A. Ryder-Cook, D. Arnaud, J-L. Mandel, and P. Avner. 1988. Conservation and re-organisation of loci on the mammalian X chromosome; a molecular framework for the identification of homologous regions in man and mouse. Genomics 22: 220-230.
3. Amir, R.E., I.B. Van den Veyver, M. Wanm, C.Q. Tran, U. Francke, and H.Y. Zhogbi. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23: 185-188.
4. Araki, E., K. Nakamura, K. Nakao, S. Kameya, O. Kobayashi, I. Nonaka, T. Kobayashi, and M. Katsuki. 1997. Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy. Biochem. Biophys. Res. Comm. 238: 492-497.
5. Arrandale, J.M., A. Gore-Willse, S. Rocks, J.M. Ren, J. Zhu, A. Davis, J.N. Livingston, and D.U. Rabin. 1996. Insulin signaling in mice expressing reduced levels of Syp. J. Biol. Chem. 271: 21353-21358.
6. Bakker, C.E., C. Verheij, R. Willemsen, R. van der Helm, F. Oerlemans, M. Vermey, A. Bygrave, A.T. Hoogeveen, B.A. Oostra, E. Reyniers et al. 1994. FMR1 knockout mice - A model to study fragile-X mental retardation. Cell 78: 23-33.
7. Barber, B.R. 1971. Research News. Mouse NewsLett. 45: 34-35.
8. Barra, J. 1990. An X-linked recessive mutation producing cleft palate, crooked tail, and polydactyly in mice. J. Hered. 81: 388-392.
9. Bedell, M.A., N.A. Jenkins, and N.G. Copeland. 1997. Mouse models of human disease. Genes & Dev. 11: 1-43.
10. Belmont, J.W. 1996. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am. J. Hum. Genet. 58: 1101-1108.
11. Berger, W., D. van de Pol, D. Bachner, F. Oerlemans, H. Winkens, H. Hameister, B. Wieringa, W. Hendriks, and H.-H. Ropers. 1996. An animal model for Norrie disease (ND); gene targeting of the mouse ND gene. Hum. Mol. Genet. 5: 51-59.
12. Bi, L., A.M. Lawler, S.E. Antonarakis, K.A. High, J.D. Gearhart, and H.H. Kazazian. 1995. Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat. Genet. 10: 119-121.
13. Blair, H.J., V. Reed, S.H. Laval, and Y. Boyd. 1994. New insights into the man-mouse comparative map of the X chromosome. Genomics 19: 215-220.
14. Blair, H.J., M. Ho, A.P. Monaco, S. Fisher, I.W. Craig, and Y. Boyd. 1995. High resolution comparative mapping of the proximal region of the mouse X chromosome. Genomics 28: 305-310.
15. Blair, H.J., E. Gormally, I.C. Uwechue, and Y. Boyd. 1998a. Mouse mutants carrying deletions that encompass the genes deleted in Coffin-Lowry syndrome and lactic acidosis. Hum. Mol. Genet. 7: 549-555.
16. Blair, H.J., I.C. Uwechue, G.S. Barsh, P.S.N. Rowe, and Y. Boyd. 19985. An integrated genetic and man-mouse comparative map of the DXHXS674-Pdha1 region of the mouse X chromosome. Genomics 48: 128-131.
17. Blaschke, R.J. and G.A. Rappold. 1997. Man to mouse - lessons learned from the distal end of the human X chromosome. Genome Res. 7: 1114-1117.
18. Boison, D. and W. Stoffel. 1994. Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid-deficient mice. Proc. Natl. Acad. Sci. 91: 11709-11713.
19. Boyd, Y., H.J. Blair, P. Cunliffe, P. Denny. E. Gormally, and G.E. Herman. 1998. Mouse Chromosome X. Mamm. Genome 8: S361-S377.
20. Boyd, Y., P. Denny, W.K. Masson, V. Reed, and R. Elliott. 1999. Mouse X chromosome. Mamm. Genome 10: 961.
21. 7-isomerase cause X-linked dominant Conradi-Hünerman syndrome. Nat. Genet. 22: 291-294.
22. Bulfield, G., W.G. Siller, P.A.L. Wight, and K.J. Moore. 1984. X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc. Natl. Acad. Sci. 81: 1189-1192.
23. Cases, O., I. Seif, J. Grimsby, P. Gaspar, K. Chen, S. Pournin, U. Müller, M. Auguet, C. Babinet, J.C. Shih et al. 1995. Aggressive behaviour and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA. Science 268: 1763-1766.
24. Castigli, E., R. Fuleihan, N. Ramesh, E. Tsitsikov, A. Tsytsykov, and R.S. Geha. 1995. CD40 ligand/CD40 deficiency. Int. Arch. Allergy Immunol. 107: 37-39.
25. Cecchi, C., M. Biasotto, M. Tosi, and P. Avner. 1997. The mottled mouse as a model for human Menkes disease: Identification of mutations in the Atp7a gene. Hum. Mol. Genet. 6: 425-433.
26. Chapman, V.M., D.R. Miller, D. Armstrong, and C.T. Caskey. 1989. Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc. Natl Acad. Sci. 86: 1292-1296.
27. Charest, N.J., Z. Zhou, D.B. Lubahn, K.E. Olsen, E.M. Wilson, and F.S. French. 1991. A frameshift mutation destablizes androgen receptor RNA in the Tfm mouse. Mol. Endocrinol. 5: 573-581.
28. Chin, L.S., L. Li, A. Ferreira, K.S. Kosik, and P. Greengard. 1995. Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice. Proc. Natl. Acad. Sci. 92: 9230-9234.
29. Cunliffe, P. 1999. "Molecular genetic analysis of mottled mice", Ph. D. thesis. University of Oxford, Oxford, UK.
30. Dahme, M., U. Bartsch, R. Martini, B. Anliker, M. Schachner, and N. Mantei. 1997. Disruption of the mouse L1 gene leads to malformations of the nervous system. Nat. Genet. 17: 346-349.
31. Danks, D.M. 1986. Of mice and men, metals and mutations. J. Med .Genet. 23: 99-106.
32. Das, S., B. Levinson, C. Vulpe, S. Whitney, J. Gitschier, and S. Packman. 1995. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet 56: 570-576.
33. Dautigny, A., M.-G. Mattei, D. Morello, P. M. Alliel, D. Pham-Dinh, L. Amar, D. Arnaud, D. Simon, J.-F. Mattei, J.-L. Guenet et al. 1986. The structural gene coding for mylein-associated proteolipid protein is mutated in jimpy mice. Nature 321: 867-868.
34. Davisson, M.T. 1987. X-linked homologies between mouse and man. Genomics 1: 213-227.
35. De Angelis, M.H. and R. Balling. 1998. Large scale ENU screens in the mouse: Genetics meets genomics. Mutat. Res. 400: 25-32.
36. De Mars, R., S.L. LeVan, B.L. Trend, and L.B. Russell. 1976. Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation. Proc. Natl. Acad. Sci. 73: 1693-1697.
37. 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat. Genet. 22: 286-290.
38. D'Esposito, M., M.R. Matarazzo, A. Ciccodicola, M. Strazzullo, R. Mazzarella, N.A. Quaderi, H. Fujiwara, M.S.H. Ko, L.B. Rowe, A. Ricco et al. 1997. Differential expression pattern of XqPAR-linked genes SYKL1 and IL9R correlates with the structure and evolution of the region. Hum. Mol. Genet. 6: 1917-1923.
39. Dinulos, M.B., M.T. Bassi, E.I. Rugarli, V. Chapman, A. Ballabio, and C. Disteche. 1996. A new region of conservation is defined between the human and mouse X chromosomes. Genomics 35: 244-247.
40. Disteche, C.M., M.B. Dinulos, M.T. Bassi, R.W. Elliott, and E.I. Rugarli. 1998. Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X chromosomes. Mamm. Genome 9: 1062-1064.
41. Dragani, T.A., Z.-B. Zeng, F. Canzian, M. Garibaldi, M.T. Ghilarducci, G. Manento, and M.A. Pierotti. 1995. Mapping of body weight loci on mouse chromosome X. Mamm. Genome 6: 778-781.
42. Ehrman, I.E., P.S. Ellis, S. Mazeyrat, S. Duthie, N. Brockdorff, M.G. Mattei, M.A. Gavin, N.A. Affara, G.M. Brown, E. Simpson et al. 1998. Characterization of genes encoding translation initiation factor eIF-2γ in mouse and human: Sex chromosome localization, escape from X-inactivation and evolution. Hum. Mol. Genet. 7: 1725-1737.
43. Eicher, E.M., J.L. Southard, C.R. Scriver, and F.H. Glorieux. 1976. Hypophosphatemia: Mouse model for human familial hyposphosphatemic (vitamin D-resistant) rickets. Proc. Natl. Acad. Sci. 73: 4667-4671.
44. Eppig, J.T. and M. Strivens. 1999. Finding a mouse: The International Mouse Strain Resource (IMSR). Trends Genet. 15: 81-82.
45. Erkman, L, R.J. McEvilly, L. Luo, A.K. Ryan, F. Hooshmand, S.M. O'Connell, E.M. Keithley, D.H. Rapaport, A.F. Ryan, and M.G. Rosenfeld. 1996. Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. Nature 381: 603-606.
46. Eshkind, L.G. and R.E. Leube. 1995. Mice lacking synaptophysin reproduce and form typical synaptic vesicles. Cell Tiss. Res. 3: 423-433.
47. Essers, J., R.W. Hendriks, S.M.A. Swagemakers, C. Troelstra, J. de Wit, D. Bootsma, J.H.J. Hoeijmakers, and R. Kanaar. 1997. Disruption of mouse RAD54 reduces ionizing radiation resistance. Cell 89: 195-204.
48. Favor, J. and W. Pretsch. 1990. Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus. Genet. Res. 56: 157-162.
49. Fisher, E.M.C. 1997. The contribution of the mouse to advances in human genetics. Adv. Genet. 35: 155-205.
50. ForssPetter, S., H. Werner, J. Berger, H. Lassmann, B. Molzer, M.H. Schwab, H. Bernheimer, F. Zimmermann, and K.A. Nave. 1997. Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J. Neurosci. Res. 50: 829-843.
51. Fransen, E.R., Dhooge, G. van Camp, M. Verhoye, J. Sijbers, E. Reyniers, P. Soriano, H. Kamiguchi, R. Willemsen, S.K.E. Koekkoek et al. 1998. L1 knockout mice show dilated ventricles, vernis hypoplasia and impaired exploration patterns. Hum. Mol. Genet. 7: 999-1009.
52. Fujiwara, Y., C.P. Browne, K. Cunniff, S.C. Goff, and S.H. Orkin. 1996. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc. Natl. Acad. Sci. 93: 12355-12358.
53. Gan, L., M. Xiang, L. Zhou, D.S. Wagner, W.H. Klein, and J. Nathans. 1996. POU domain factor Brn-3b is required for the development of a large set of retinal ganglion cells. Proc. Natl. Acad. Sci. 93: 3920-3925.
54. Garber, E.D. 1952. "Bent-tail", a dominant sex-linked mutation in the mouse. Proc. Natl. Acad. Sci. 38: 8786-8789.
55. Gaspar, M.-L., T. Meo, P. Bourgarel, J.-L. Guenet, and M. Tosi. 1991. A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation. Proc. Natl. Acad. Sci. 88: 8606-8610.
56. George, A.M., V. Reed, P. Glenister, Z. Tümer, N. Horn, J. Chelly, A.P. Monaco, and Y. Boyd. 1994. Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice. Genomics 37: 96-104.
57. Gormally E. and Y. Boyd. 1998. Faint lined (Fnl): A novel X-linked coat mutant in the mouse. Genet. Res. 72: 211-216.
58. Greenwood, A.D., E.M. Southard-Smith, A.T.J. Galecki, and D.T. Burke. 1997. Coordinate control and variation in X-linked gene expression among female mice. Mamm. Genome 8: 818-822.
59. Griffiths, I.R., I. Scott, M.C. McCulloch, J.A. Barrie, K. McPhilemy, and B.M. Cattanach. 1990. Rumpshaker mouse: A new X-linked mutation affecting myelination: Evidence for a defect in PLP expression. J. Neurocytol. 19: 273-283.
60. Griffiths, I.R., A. Schneider, J. Anderson, and K.A. Knave. 1995. Transgenic and natural mouse models of proteolipid (PLP)-related dysmyelination and demyelination. Brain Pathol. 5: 275-281.
61. Griffiths, I.R., M. Klugmann, T. Anderson, C. Thomson, D. Vouyiouklis, and K.A. Nave. 1998. Current concepts of PLP and its role in the nervous system. Microscop. Res. Technique 41: 344-358.
62. Grimsby, J., M. Toth, K. Chen, T. Kumazawa, L. Klaidman, J.D. Adams, F. Karoum, J. Gal, and J.C. Shih. 1997. Increased stress response and β-phenylethylamine in MAOB-deficient mice. Nat. Genet. 17: 206-210.
63. Guenet, J.-L., C. Nagamine, D. Simon-Chazettes, X. Montagutelli, and F. Bonhomme. 1990. Hst-3: And X-linked hybrid sterility gene. Genet. Res. 56: 163-165.
64. Hampton, L.L., E.E. Ladenheim , M. Akeson, J.M. Way, H.C. Weber, V.E. Sutliff, R.T. Jensen, L.J. Wine, H. Arnheiter, and J.F. Battey. 1998. Loss of bombesin-induced feeding suppression in gastrin-releasing peptide receptor-deficient mice. Proc. Natl. Acad. Sci. 6: 3188-3192.
65. Happle, R. 1983. Homologous genes for X-linked dominant chondrodysplasia punctata in man and mouse. Hum. Genet. 63: 24-27.
66. Hein, L., G.S. Barsh, R.E. Pratt, V.J. Dzau, and B.K. Kobilka. 1995. Behavioural and cardiovascular effects of disrupting the angiotensin II type-2 receptor in mice. Nature 377: 744-747.
67. Heller, E. and D.H. Pluznik. 1984. Chromosomal assignment of two murine genes controlling susceptibility to spleen focus formation by Rauscher leukemia virus. Exp. Hematol. 12: 645-649.
68. Hetherington, C. 1977. Research News. Mouse NewsLett. 56: 35.
69. Hooper, M., K. Hardy, A. Handyside, S. Hunter, and M. Monk. 1987. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326: 292-295.
70. Hunsicker, P.R. 1969. Research News. Mouse NewsLett. 40: 42.
71. Hunsicker, P.R. 1974. New mutants: Eye-ear reduction Ie. Mouse NewsLett. 50: 51-52.
72. Hunt, D.M. 1974. Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249: 852-854.
73. Huq, A.H.M.M., R.S. Lovell, C.N. Ou, A.L. Beaudet, and W.J. Craigen. 1997. X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death. Hum. Mol. Genet. 6: 1803-1809.
74. Ichiki, T., P.A. Labosky, C. Shiota, S. Okuyama, Y. Imagawa, A. Fogo, F. Niimura, I. Ichikawa, B.L.M. Hogan, and T. Inagami. 1995. Effects on blood pressure and exploratory behaviour of mice lacking angiotensin II type-2 receptor. Nature 377: 748-750.
75. Janne, P.A., S.F. Suchy, D. Bernard, M. MacDonald, J. Crawley, A. Grinberg. A. Wynshaw-Boris, H. Westphal, and R.L. Nussbaum. 1998. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J. Clin. Invest. 101: 2042-2053.
76. Justice, M.J., B. Zheng, R.P. Woychik, and A. Bradley. 1997. Using targeted large deletions and high efficiency N-ethyl-N-nitrosourea mutagenesis for functional analyses of the mammalian genome. Methods: Companion Methods Enzymol. 13: 423-436.
77. Kerner, J.D., M.W. Appleby, R.N. Mohr, S. Chien, D.J. Rawlings, C.R. Maliszewski, O.N. Witte, and R.M. Perlmutter. 1995. Impaired expansion of mouse B cell progenitors lacking Btk. Immunity 3: 301-312.
78. Khan, W.N., A. Nilsson, E. Mizoguchi, E. Castigli, J. Forsell, A.K. Bhan, R. Geha, P. Sideras, and F.W. Alt. 1997. Impaired B cell maturation in mice lacking Bruton's tyrosine kinase (Btk) and CD40. Int. Immunol. 9: 395-405.
79. Kingston, P.J., C.E.M. Bannerman, and R.M. Bannerman. 1978. Iron deficiency anaemia in newborn sla mice: A genetic defect of placental iron transport. Br. J. Haematol. 40: 265-276.
80. Klugman, M., M.H. Schwab, A. Pulhofer, A. Schneider, F. Zimmerman, I.R. Griffiths, and K.A. Knave. 1997. Assembly of CNS melin in the absence of proteolipid protein. Neuron 18: 59-70.
81. Kuehn, M.R., A. Bradley, E.J. Robertson, and M.J. Evans. 1987. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature 326: 295-298.
82. Lane, P.W. and M.T. Davisson. 1990. Patchy fur (Paf), a semidominant X-linked gene associated with a high level of X-Y nondisjunction in male mice. J. Hered. 81: 43-50.
83. Larsen, M.M. 1964. Research news: Greasy. Mouse NewsLett. 30: 47.
84. Laval, S.H. and Y. Boyd. 1993. Partial inversion of gene order within an homologous segment on the X chromosome. Mamm. Genome 4: 119-123.
85. Laverty, H.G. and J.B. Wilson. 1998. Murine CASK is disrupted in a sex-linked cleft palate mouse mutant. Genomics 53: 29-41.
86. Leonard, W.J., E.W. Shores, and P.E. Love. 1995. Role of common cytokine receptor gamma chain in cytokine signaling and lymphoid development. Immunol. Rev. 148: 97-114.
87. Li, M., J.A. Squire, and R. Weksberg. 1998. Overgrowth syndromes and genomic imprinting: From mouse to man. Clin. Genet. 53: 165-170.
88. Liu, X.Y., A.W. Dangel, R.I. Kelley, W. Zheo, P. Denny, M. Botcherby, B. Cattanach, J. Peters, P.R. Hunsicker, A.-M. Mallon et al. 1999. The mouse bare patches and striated gene encodes a novel 3β-hydroxysteroid dehydrogenase. Nat. Genet. 22: 182-187.
89. Lorenz, B., F. Francis, K. Gempel, A. Boddrich, M. Josten, W. Schmahl, J. Schmidt, H. Lehrach, T. Meitinger, and T.M. Strom. 1999. Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene. Hum. Mol. Genet. 7: 541-547.
90. Lu, J.F., A.M. Lawler, P.A. Watkins, J.M. Powers, A.B. Moser, H.W. Moser, and K.D. Smith. 1997. A mouse model of X-linked adrenoleukodystrophy. Proc. Natl. Acad. Sci. 94: 9366-9371.
91. Luoh, S.W., P.A. Bain, R.D. Polakiewicz, M.L. Goodheart, H. Gardner, R. Jaenisch, and D.C. Page. 1997. ZFX mutation results in small animal size and reduced germ cell number in male and female mice. Development 124: 2275-2284.
92. Lyon, M.F. 1999. X-inactivation. Curr. Biol. 9: R235-R237.
93. Lyon, M.F., B.M. Cattanach, and H.M. Charlton. 1981a. Genes affecting sex differentiation in mammals. In Mechanisms of sex differentiation in animals and man (ed. C.R. Austin and R.G. Edwards), pp. 329-386, Academic Press, New York, NY.
94. Lyon, M.F., R.J.S. Phillips, and G. Fisher. 1981b. Use of an inversion to test for induced X-linked lethals in mice. Mutat. Res. 92: 217-228.
95. Lyon, M.F., C.R. Scriver, L.R.I. Baker, H.S. Tenenhouse, J. Kronick, and S. Mandla. 1986. The Gy mutation: Another cause of X-linked hypophosphatemia in mouse. Proc. Natl. Acad. Sci. 43: 4899-4903.
96. Lyon, M.F., J. Peters, P.H. Glenister, S. Ball, and E. Wright. 1990. The scurfy mouse has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc. Natl. Acad. Sci. 87: 2433-2437.
97. Marra, M., L.-D. Hillier, T. Kucaba, M. Allen, R. Barstead, C. Beck, A. Blistain, M. Bonaldi, Y. Bowers, L. Bowles et al. 1999. An encylopedia of mouse genes. Nat. Genet. 21: 191-194.
98. Marahens, Y., B. Panning, J. Dausman, W. Strauss, and R. Jaenisch. 1997. Xist-deficient mice are defective in dosage compensation but not spermatogenesis. Genes & Dev. 11: 156-166.
99. 4 by an X-linked gene in C3H/HeJ and SJl/J mice. J. Immunol. 118: 2293-2295.
100. McMahon, H.T., V.Y. Bolshakov, R. Janz, R.E. Hammer, S.A. Siegelbaum, and T.C. Sudhof. 1996. Synaptophysin, a major synaptic vesicle protein is not essential for neurotransmitter release. Proc. Natl. Acad. Sci. 10: 4760-4764.
101. Meier, H. and A.D. MacPike. 1970. A neurological mutation (msd) of the mouse causing a deficiency of myelin synthesis. Exp. Brain Res. 10: 510-525.
102. Meyers, E.N., M. Lewandoski, and G.R. Martin. 1998. An Fgf8 mutant allelic series generated by Cre- and F1p-mediated recombination. Nat. Genet. 18: 136-141.
103. Miller, J.R. 1990. X-linked traits: A catalog of loci in non-human mammals. Cambridge University Press, Cambridge, UK.
104. Minowa, O., K. Ikeda, Y. Sugitani, T. Oshima, S. Nakai, Y. Katori, M. Suzuki, M. Furukawa, T. Kawase, Y. Zheng et al. 1999. Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science 285: 1408-1411.
105. Morgenstern, D.E., M.A. Gifford, L.L. Li, C.M. Doerschuk, and M.C. Dinauer. 1997. Absence of respiratory burst in X-linked chronic granulomatous disease mice leads to abnormalities in both host defence and inflammatory response to Aspergillus fumigatus. J. Exp. Med. 185: 207-218.
106. Mozes, E. and S. Fuchs. 1974. Linkage between iummune response potential to DNA and X chromosome. Nature 249: 167-168.
107. Müller, U. 1999. Ten years of gene targeting: Targeted mouse mutants, from vector design to phenotype analysis. Mech. Dev. 82: 3-21.
108. Nehls, M., M. Messerle, A. Sirulnik, A.J. Smith, and T. Boehm. 1994. Two large insert vectors lambda PS and lambda Ko, facilitate rapid mapping and targeted disruption of mammalian genes. BioTechniques 17: 770-775.
109. Nothnick, W.B., P. Soloway, and T.E. Curry. 1997. Assessment of the role of tissue inhibitor of metalloproteinase-1 (TIMP-1) during the periovulatory period in female mice lacking a functional TIMP-1 gene. Biol. Reprod. 56: 1181-1188.
110. Ogura, H., S. Takada, N. Mise, M. Sugimoto, S.-S. Tan, and N. Takagi. 1998. Translocation breakpoint possibly predisposes to nonrandom X-chromosome inactivation in mouse embryos bearing Searle's T(X;16)16H translocation. Cytogenet. Cell Genet. 80: 173-178.
111. Ohbo, K., T. Suda, M. Hashiyama, A. Mantani, M. Ikebe, K. Miyakawa, M. Moriyama, M. Nakamura, M. Katsuki, K. Takahashi et al. 1996. Modulation of haematopoiesis in mice with a truncated mutant of the interleukin-2 receptor gamma chain. Blood 87: 956-967.
112. Ohki-Hamazaki, H., E. Wada, K. Matsui, and K. Wada. 1997. Cloning and expression of the neuromedin B receptor and the third type of bombesin receptor genes in the mouse. Brain Res. 762: 165-172.
113. Ohno, S. 1973. Ancient linkage groups and frozen accidents. Nature 244: 259-262.
114. Ohshima T., G.J. Murray, W.D. Swaim, G. Longenecker, J.M. Quirk, C.O. Cardarelli, Y. Sugimoto, I. Pastan, M.M. Gottesman, R.O. Brady et al. 1997. Alpha-galactosidase deficient mice: A model of Fabry disease. Proc. Natl. Acad. Sci. 94: 2540-2544.
115. Okuyama, S., T. Sakagawa, S. Chaki, Y. Imagawi, and T. Ichiki. 1999. Anxiety-like behaviour in mice lacking the angiotensin II type-2 receptor. Brain Res. 821: 150-159.
116. Oostra, B.A. and A.T. Hoogeveen. 1997. Animal model for fragile X syndrome. Ann. Med. 29: 563-567.
117. Paigen, K. 1995. A miracle enough: The power of mice. Nat. Med. 1: 215-220.
118. Pandolfi, P.P., F. Sonati, R. Rivi, P. Mason, F. Grosveld, and L. Luzzatto. 1995. Targeted disruption of the housekeeping gene encoding glucose 6-phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defence against oxidative stress. EMBO J. 14: 5209-5215.
119. Penny, G.D., G.F. Kay, S.A. Sheardown, S. Rastan, and N. Brockdorff. 1996. Requirement for Xist in X chromosome inactivation. Nature 379: 131-137.
120. Pevny, L., M.C. Simon, E. Robertson, W.H. Klein, S.F. Tsai, V. D'Agati, S.H. Orkin, and F. Constantini. 1991. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature 349: 257-260.
121. Phillips, R.J.S. and G. Fisher. 1978. New mutants. Mouse NewsLett. 58: 43-44.
122. Phippard, D., L. Lu, D. Lee, J.C. Saunders, and E.B. Crenshaw. 1999. Targeted mutagenesis of the POU domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. J. Neurosci. 19: 5980-5989.
123. Phippard, D., Y. Boyd, V. Reed, G. Fisher, W.K. Masson, E.P. Evans, J.C. Saunders, and E.B Crenshaw. 2000. The sex-linked fidget mutation abolishes Brn4/Pou3f4 expression in the embryonic inner ear. Hum. Mol. Genet. 9: 79-85.
124. Phipps, E.L. 1969. New mutants: Irregular teeth It. Mouse NewsLett. 40: 41-42.
125. Pollock, J.D., D.A. Williams, M.A. Gifford, L.L. Li, X. Du, J. Fisherman, S.H. Orkin, C.M. Doerschuk, and M.C. Dinauer. 1995. Mouse model of X-linked chronic granulomatous disease, an inherited defect in superoxide production. Nat. Genet. 9: 202-209.
126. Quaderi, N.A., S. Messali, S. Cainarca, A. Ballabio, G. Meroni, and E. Rugarli. 1998. Possible involvement of Midi in the patchy fur (Paf) mutant. In Twelfth International Mouse Genome Conference, Garmisch-Partenkirchen, Bavaria.
127. Rawlings, D.J., D.C. Saffran, S. Tsukada, D.A. Largasepada, J.C. Grimaldi, L. Cohen, R.N. Mohr, J.F. Bazan, M. Howard, N.G. Copeland et al. 1993. Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 261: 358-361.
128. Reed, V. and Y. Boyd. 1997. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes disease. Hum. Mol. Genet. 6: 417-423.
129. Renshaw, B.R., W.C. Fanslow, R.J. Armitage, K.A. Campbell, D. Liggitt, B. Wright, B.L. Davison, and C.R. Maliszewski. 1994. Humoral responses in CD40-ligand deficient mice. J. Exp. Med. 180: 1889-1900.
130. Rosahl, T.W., M. Geppert, D. Spillane, J. Herz, R.E. Hammer, R.C. Malenka and T.C. Sudhof. 1993. Short-term plasticity is altered in mice lacking synapsin-1. Cell 75: 661-670.
131. ash mutant mice: Two cytoplasmic precursors, one mitochondrial enzyme. Science 222: 426-428.
132. Rossiter, B.J.F. and C.T. Caskey. 1991. Molecular studies of human genetic disease. FASEB J. 5: 21-27.
133. Roths, J.B., W.B. Foxworth, M.J. McArthur, C.A. Montgomery, and A.B. Kier. 1999. Spontaneous and engineered mutant mice as models for experimental and comparative pathology: History, comparison, and developmental technology. Lab. Anim. Sci. 49: 12-29.
134. Rougelle, C. and P. Avner. 1996. Cloning and characterisation of a murine brain specific gene Bpx and its human homologue lying within the Xic candidate region. Hum. Mol. Genet. 5: 41-49.
135. Scherer, S.S., Y.T. Xu, E. Nelles, K. Fischbeck, K. Willeke, and L.J. Bone. 1998. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 24: 8-20.
136. Schimenti, J. and M. Bucan. 1998. Functional genomics in the mouse: Phenotype based mutagenesis screens. Genome Res. 8: 698-710.
137. Searle, A.G. 1964. Genetic effects of spermatogonial X-irradiation on the productivity of F1 female mice. Mutat. Res. 1: 99-108.
138. Searle, A.G., J. Peters, M.F. Lyon, E.P. Evans, J.H. Edwards, and V.J. Buckle. 1987. Chromosome maps of man and mouse III. Genomics 1: 3-18.
139. Searle, A.G., J. Peters, M.F. Lyon, J.G. Hall, E.P. Evans, J.H. Edwards, and V.J. Buckle. 1989. Chromosome maps of man and mouse IV. Ann. Hum. Genet. 53: 89-140.
140. Snapper, S.B., F.S. Rosen, E. Mizoguchi, P. Cohen, W. Khan, C.H. Liu, T.L. Hagemann, S.P. Kwanm, R. Ferrini, L. Davidson et al. 1998. Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation. Immunity 9: 81-91.
141. Srivastava, A.K., J. Pispa, A.J. Hartung, Y. Du, S. Ezer, T. Jenks, T. Shimada, M. Pekkanen, M.L. Mikkola, M.S.H. Ko et al. 1997. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc. Natl. Acad. Sci. 94: 13069-13074.
142. Strom, T.M., F. Francis, B. Lorenz, A. Böddrich, M.J. Econs, H. Lehrach, and T. Meitinger. 1997. Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum. Mol. Genet. 6: 165-171.
143. Sugamura, K., H. Asao, M. Kondo, N. Tanaka, N. Ishii, K. Ohbo, M. Nakamura, and T. Takeshita. 1996. The interleukin-2 receptor gamma chain: Its role in the multiple cytokine receptor complexes and T cell development in XSCID. Annu. Rev. Immunol. 14: 179-205.
144. Sweet, H.O. and P.W. Lane. 1980. X-linked polydactyly (Xpl), a new mutation in the mouse. J. Hered. 71: 207-209.
145. Sweet, H.O., R.T. Bronson, B.S. Harris, and M.T. Davisson. 1990. Trembly-like (Tyl) - a new X-linked mutation in the mouse. Mouse Genome 87: 112.
146. Takahashi, S., K. Onodera, H. Motohashi, N. Suwabe, N. Hayashi, N. Yanai, Y. Nabesima, and M. Yamamoto. 1997. Arrest in primitive erythroid cell development caused by promoter-specific disruption of the GATA-1 gene. J. Biol. Chem. 272: 12611-12615.
147. Takei, Y., A. Harada, S. Takeda, K. Kobayashi, S. Terada, T. Noda, T. Takahashi, and N. Hirokawa. 1995. Synapsin I deficiency results in the structural change in the presynaptic terminals in the murine nervous system. J. Cell Biol. 131: 1789-17880.
148. Tam, P.L.P. and S.-S. Tan. 1992. The somitogenic potential of cells in the primitive streak and the tail bud of the organogenesis-stage mouse embryo. Development 115: 703-715.
149. Tanaka, S., T. Kaneko, T. Moriyama, and A. Matsuzawa. 1993. A new testicular feminization mutation found in C57BL/6J mice. Lab. Anim. 28: 262-264.
150. Tarutani, M., S. Itami, M. Okabe, M. Ikawa. T. Tezuka, K. Yoshikawa, T. Kinoshita, and J. Takeda. 1997. Tissue-specific knockout of the mouse Pig-a gene reveals important roles for GP1-anchored proteins in skin development. Proc. Natl. Acad. Sci. 94: 7400-7405.
151. Tate, P., W. Skarnes, and A. Bird. 1996. The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nat. Genet. 12: 205-208.
152. Tecott, L.H., L.M. Sun, S.F. Akana, A.M. Strack, D.H. Lowenstein, M.F. Dallman, and D. Julius. 1995. Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors. Nature 374: 542-546.
153. Thomas, J.D., P. Sideras, C.I.E. Smith, I. Vorechovský, V. Chapman, and W.E. Paul. 1993. Colocalization of X-linked agammalobulinemia and X-linked immunodeficiency genes. Science 261: 355-358.
154. Tsuda, H., C.E. Maynard-Currie, L.H. Reid, T. Yoshida, K. Edamura, N. Maeda, O. Smithies, and A. Jakobivits. 1997. Inactivation of the mouse HPRT locus by a 203-bp retroposon insertion and a 55-kb gene-targeted deletion: Establishment of new HPRT-deficient mouse embryonic stem cell lines. Genomics 42: 413-421.
155. Tümer, Z. and N. Horn. 1997. Menkes disease: Recent advances and new aspects. J. Med. Genet. 34: 265-274.
156. Tümer Z., C. Lund, J. Tolshave, B. Vural, T. Tønnesen, and N. Horn. 1997. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am. J. Hum. Genet. 60: 63-71.
157. van den Hurk, J.A., W. Hendriks, D.J. van de Pol, F. Oerlemans, G. Jaissle, K. Ruther, K. Kohler, J. Hartmann, E. Zrenner, H. van Bokhoven et al. 1997. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum. Mol. Genet. 6: 851-858.
158. Veres, G., R.A. Gibbs, S.E. Schere, and C.T. Caskey. 1987. The molecular basis of the sparse fur mutation. Science 237: 415-417.
159. Vulpe, C.D., Y-M. Kuo, T.I. Murphy, L. Cowley, C. Askwith, N. Libina, J. Gitschier, and G.J. Anderson. 1999. Hephaestin, a ceruloplasmin homologue implicated in intestinal ion transport, is defective in the sla mouse. Nat. Genet. 21: 195-199.
160. Wang, L., M. Zoppe, T.M. Hackeng, J.H. Griffin, K.F. Lee, and I.M. Verma. 1997. A factor IX deficient mouse model for hemophila B gene therapy. Proc. Natl. Acad. Sci. 94: 11563-115636.
161. Xu, J., T.M. Foy, J.D. Iaman, E.A. Elliott, J.J. Dunn, T.J. Waldschmidt, J. Elsemore, R.J. Noelle, and R.A. Flavell. 1994. Mice deficient for the CD401 ligand immunity. Immunity 1: 423-431.
162. Xu, T.S., P. Bianco, L.W. Fisher, G. Longnecker, E. Smith, S. Goldstein, J. Bonadio, A. Boskey, A.M. Heegard, B. Sommer et al. 1998. Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. Nat. Genet. 20: 78-82.
163. 2 mice derived from am AKR/J x SWR/J cross. Mamm. Genome 8: 726-730.
164. You, Y., R. Bergstrom, M. Klemm, B. Lederman, H. Nelson, C. Ticknor, R. Jaenisch, and J. Schimenti. 1997. Chromosomal deletion complexes in mice by radiation of embryonic stem cells. Nat. Genet. 15: 285-288.
165. Zechner, U., M. Reule, A. Orth, F. Bonhomme, B. Strack, J.-L. Guenet, H. Hameister, and R. Fundele. 1996. An X-chromosome linked locus contributes to abnormal placental development in the mouse. Nat. Genet. 4: 398-403.
166. Zeicher, M., E. Mozes, and P. Lonai. 1977. Lymphocyte alloantigens associated with X-chromosome-linked immune response genes. Proc. Natl. Acad. Sci. 74: 721-724.
167. Zheng, B.H., A.A. Mills, and A. Bradley. 1999. A system for rapid generation of coat color-tagged knock-outs and defined chromosomal rearrangements in mice. Nucleic Acids Res. 27: 2354-2360.
168. Zhou, E., J. Favor, W. Dilvers, and D. Stamboulian. 1995. Exclusion of the candidate genes, Grpr, Cxn33 and Pdha1, for X-linked cataract gene on the distal region of mouse chromosome X. Mamm. Genome 6: 357-359.