Harlequin ichthyosis (ichq): A juvenile lethal mouse mutation with ichthyosiform dermatitis

American Journal of Pathology

Volumn 151, Issue 1, 1997, Pages 293-310

  Sundberg, John P ^a   Boggess, Dawnalyn ^a   Hogan, Margaret E ^a   Sundberg, Beth A ^a   Rourk, Michael H ^a   Harris, Belinda ^a   Johnson, Kenneth ^a   Dunstan, Robert W ^a,b   Davisson, Muriel T ^a  

^a JACKSON LABORATORY   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL GRANULE; CELL ULTRASTRUCTURE; CONTROLLED STUDY; DERMATITIS; GENE LOCUS; GENE MUTATION; ICHTHYOSIS; MOUSE; NONHUMAN; OVARY FOLLICLE STRATUM GRANULOSUM; PHENOTYPE; PRIORITY JOURNAL; SEBACEOUS GLAND; SKIN GRAFT;

ANIMALS; ANIMALS, NEWBORN; CHROMOSOME MAPPING; CROSSES, GENETIC; DERMATITIS; DISEASE MODELS, ANIMAL; FEMALE; GENES, LETHAL; ICHTHYOSIS, LAMELLAR; IMAGE PROCESSING, COMPUTER-ASSISTED; IMMUNOHISTOCHEMISTRY; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICE, NUDE; MUTATION; PHENOTYPE; SKIN TRANSPLANTATION;

EID: 0030737746     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (59)

1. Frost P, Scott EV: Ichthyosiform dermatoses. Arch Dermatol 1966, 94:113-126
2. Schnyder UW: Die hereditaren Ichthyosen. Shweiz Rundschau Med (Praxis) 1986, 75:185-191
3. Shwayder T, Ott F: All about ichthyosis. Pediatr Clin N Am 1991, 38:835-857
4. Roberts LJ: Long-term survival of a harlequin fetus. J Am Acad Dermatol 1989, 21:335-339
5. Wells RS, Kerr CB: Genetic classification of ichthyosis. Arch Dermatol 1965, 92:1-6
6. Esterly NB: The ichthyosiform dermatoses. Pediatrics 1968, 42:990-1004
7. Barker LP, Sach W: Bullous congenital ichthyosiform erythroderma. Arch Dermatol 1953, 67:443-455
8. Thomas MS, Wakeley CPG: The harlequin foetus. J Obstet Gynecol 1921, 28:190-203
9. Kessel I, Friedlander FC: Harlequin foetus. Arch Dis Childhood 1955, 31:53-55
10. Briceno-Maaz T: Two cases of congenital ichthyosis. Arch Dermatol 1963, 87:230-233
11. Elias S, Mazur M, Sabbagha R, Esterly NB, Simpson JL: Prenatal diagnosis of harlequin ichthyosis. Clin Genet 1980, 17:275-280
12. Blanchet-Bardon C, Dumez Y, Labbe F, Bernheim A, Brocheriou C: Prenatal diagnosis of harlequin fetus using electron microscopy. Ann Pathol 1983, 3:321-325
13. Lawlor F, Peiris S: Harlequin fetus successfully treated with etretinate. Br J Dermatol 1985, 112:585-590
14. Unamuno P, Pierola JM, Fernandez E, Roman C, Velasco JA: Harlequin foetus in four siblings. Br J Dermatol 1987, 116:569-572
15. Abramson A, Sperling R, Moshirpur J: Harlequin fetus in twins. Mt Sinai J Med 1985, 51:290-291
16. Mihalko M, Lindfors KK, Grix AW, Brant WE, McGahan JP: Prenatal sonographic diagnosis of harlequin ichthyosis. Am J Radiol 1989, 153:827-828
17. Craig JM, Goldsmith LA, Baden HP: An abnormality of keratin in the harlequin fetus. Pediatrics 1970, 46:437-440
18. Baden HP, Goldsmith LA: The structural proteins of harlequin fetus: stratum corneum. J Invest Dermatol 1973, 61:25-26
19. Baden HP, Kubilus J, Rosenbaum K, Fletcher A: Keratinization in the harlequin fetus. Arch Dermatol 1982, 118:14-18
20. Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP: Heterogeneity in harlequin ichthyosis, an inforn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol 1990, 94:6-18
21. August JR, Chickering WR, Rikihisa Y: Congenital ichthyosis in a dog: comparison with the human ichthyosiform dermatoses. Companion Small Animals 1988, 10:40-44
22. Baker JR, Ward WR: Ichthyosis in domestic animals: a review of the literature and a case report. Br Vet J 1985, 141:1-8
23. Belknap EB, Dunstan RW: Congenital ichthyosis in a Ilama. J Am Vet Med Assoc 990, 197:764-767
24. Dunstan RW, Rosser EJ: Newly recognized and emerging genodermatoses in domestic animals. Curr Probl Dermatol 1987, 17:216-235
25. Abbott UK, Sawyer RH: Avian ichthyosis, the consequences of rescuing a lethal condition. Poultry Sci 1974, 53:1897
26. Sawyer RH, Abbott UK: Avian ichthyosis: altered cell proliferation. Poultry Sci 1974, 53:1976
27. Rendon JA, Abbott UK: Developmental studies with avian ichthyosis. Poultry Sci 1980, 59:1654
28. Sundberg JP, Shultz LD: Inherited mouse mutations: models for the study of alopecia. J Invest Dermatol 1991, 96;95S-96S
29. Sundberg JP, King LE: Mouse mutations as animal models and biomedical tools for dermatological research. Prog Dermatol 1994, 28:1-12
30. Sundberg JP, King LE: Mouse mutations as animal models and biomedical tools for dermatological research. J Invest Dermatol 1996, 106:368-379
31. Carter TC, Phillips RS: Ichthyosis, a new recessive mutation in the house mouse, J Hered 1950, 41:297-300
32. Selmanowitz VJ: Ectodermal dysplasias including epitheliogenesis imperfecta, ichthyoses, and follicular/glandular anomalies. Spontaneous Animal Models of Human Disease, vol 2. Edited by EJ Andrews, BC Ward, NH Altman. New York, Academic Press, 1979, pp 3-10
33. Holbrook KA: Ichthyosis, inherited, skin, mouse (ic/ic). Monographs on Pathology of Laboratory Animals: Integument and Mammary Glands, Edited by TC Jones, U Mohr, RD Hunt. Heidelberg, Springer-Verlag, 1989, pp 223-229
34. Sundberg JP, Pittelkow MR: The ichthyosis (ic) mutation, chromosome 1. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. Edited by JP Sundberg, Boca Raton, FL, CRC Press, 1994, pp 327-335
35. Sundberg JP, Beamer WG, Shultz LD, Dunstan RW: Inherited mouse mutations as models of human adnexal, cornification, and papulosquamous dermatoses. J Invest Dermatol 1990, 95:62s-63s
36. Sundberg JP, Boggess D, Shultz LD, Beamer WG: The flaky skin (fsn) mutation, chromosome? Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. Edited by JP Sundberg, Boca Raton, FL, CRC Press, 1994, pp 253-268
37. Sundberg JP: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. Boca Raton, FL, CRC Press, 1994, pp 159-479
38. Headington JT: Transverse microscopic anatomy of the human scalp: a basis for a morphologic approach to disorders of the hair cycle. Arch Dermatol 1984, 120:449-456
39. Whiting DA: The value of horizontal sections of scalp biopsies. J Cutan Aging Cosmet Dermatol 1990, 1:165-173
40. Whiting DA: Diagnostic and predictive value of horizontal sections of scalp biopsy specimens in male pattern androgenetic alopecia. J Am Acad Dermatol 1993, 28:755-763
41. Sundberg JP, Dunstan RW, Roop DR, Beamer WG: Full-thickness skin grafts from flaky skin mice to nude mice: maintenance of the psoriasiform phenotype. J Invest Dermatol 1994, 102:781-788
42. Smith RS, Hawes NL, Kuhlmann SD, Heckenlively JR, Chang B, Roderick TH, Sundberg JP: Corn 1: a mouse model for corneal surface disease and neovascularization. Invest Ophthalmol Vis Sci 1996, 37:397-404
43. Sundberg JP, Rourk M, Boggess D, Hogan ME, Sundberg BA, Bertolino A: Angora mouse mutation: altered hair cycle, follicular dystrophy, phenotypic maintenance of skin grafts, and changes in keratin expression. Vet Pathol 1997 (in press)
44. Swartzendruber D, Burnett I, Wertz P, Madison K, Squier C: Osmium tetroxide and ruthenium tetroxide are complementary reagents for the preparation of epidermal samples for transmission electron microscopy. J Invest Dermatol 1995, 104:417-420
45. Morita K, Hogan ME, Nanney LB, King LE, Manabe M, Sun T-T, Sundberg JP: Cutaneous ultrastructural features of the flaky skin (fsn/fsn) mouse mutation. J Invest Dermatol 1995, 22:385-395
46. Sundberg JP, Erickson AA, Roop DR, Binder RL: Orni- thine decarboxylase expression in cutaneous papillomas in SENCAR mice is associated with altered expression of keratins 1 and 10. Cancer Res 1994, 54: 1344-1351
47. Love JM, Knight AM, McAleer MA, Todd JA: Towards construction of a high resolution map of the mouse genome using PCR-analysed microsatellites. Nucleic Acids Res 1990, 18:4123-4130
48. Dietrich W, Katz H, Lincoln SE, Shin H-S, Friedman J, Dracopoli NC, Lander ES: A genetic map of the mouse suitable for typing intraspecific crosses. Genetics 1992, 131:423-447
49. Montagutelli X: Gene-Link: a program in Pascal for backcross genetic linkage analysis. J Hered 1990, 81: 490-491
50. Hashimoto K, Khan S: Harlequin fetus with abnormal lamellar granules and giant mitochondria. J Cutan Pathol 1992, 19:247-252
51. Hashimoto K, Dobbeleer GD, Kanzaki T: Electron microscopic studies of harlequin fetuses. Pediatr Dermatol 1993, 10:214-223
52. Milner ME, O'Guin WM, Holbrook KA, Dale BA: Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol 1992, 99:824-829
53. Sundberg JP: Conceptual evaluation of animal models as tools for the study of diseases in other species. Lab Anim 1993, 21:48-51
54. Sundberg JP, HogenEsch H, King LE: Mouse mutations for scaly skin diseases. Dermatologic Research Techniques. Edited by HI Maibach. Boca Raton, FL, CRC Press, 1995, pp 61-89
55. Frei J, Sheldon H: Corpus intra cristam: a dense body within mitochondria of cells in hyperplastic mouse epidermis. J Biophys Biochem Cytol 1961, 11:724-729
56. Gijbels M, HogenEsch H, Blauw B, Roholl P, Zurcher C: Ultrastructure of epidermis of mice with chronic proliferative dermatitis (cpdm/cpdm). Ultrastruct Pathol 1995, 19:107-111
57. Clifford C, Walton B, Reed T, Coyle M, White W, Amyx H: Hyperkeratosis in athymic nude mice caused by a coryneform bacterium: microbiology, transmission, clinical signs, and pathology. Lab Anim Sci 1995, 45: 131-139
58. Rothnagel J, Longley M, Bundman D, Naylor SL, Lalley PA, Jenkins NA, Gilbert DJ, Copeland NG, Roop DR: Characterization of the mouse loricrin gene: linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome 3, Genomics 1994, 23:450-456
59. Mouse Genome Database (MGD), Mouse Genome Informatics, The Jackson Laboratory, Bar Harbor, Maine. World Wide Web (URL;http://www.informatics.jax.org/) 1997