Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8

Investigative Ophthalmology and Visual Science

Volumn 39, Issue 10, 1998, Pages 1863-1869

  Grimes, Patricia A ^a   Koeberlein, Brigitte ^c   Favor, Jack ^b   Neubäuser Klaus, Angelika ^a   Stamboltan, Dwight ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME BANDING PATTERN; CONGENITAL CATARACT; CONTROLLED STUDY; CORNEA OPACITY; EMBRYO; EYE DEVELOPMENT; GENE LOCUS; GENE MUTATION; HISTOPATHOLOGY; MICROPHTHALMIA; MOUSE; NONHUMAN; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ANIMALS; ANTERIOR EYE SEGMENT; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES; EYE; EYE ABNORMALITIES; FEMALE; LENS, CRYSTALLINE; MICE; MICE, INBRED C3H; MICE, MUTANT STRAINS; MORPHOGENESIS; MUTATION; PREGNANCY;

EID: 0031659016     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Favor J, Pretsch W. Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus. Genet Res. 1990;56:157-162.
2. a, a dominant mouse cataract mutation on chromosome 2 [ARVO Abstract]. Infest Opbthalmol Vis Sci. 1995;36(4):S798. Abstract nr 3700.
3. Favor J, Grimes P, Neuhäuser-Klaus A, Pretsch W, Stambolian D. The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion. Mamm Genome. 1997;8:403-406.
4. Cohen AI. Electron microscopic observations of the developing mouse eye, I: basement membranes during early development and lens formation. Dev Biol. 1961;3:297-316.
5. Coulombre JL, Coulombre AJ. Regeneration of neural retina from the pigmented epithelium in the chick embryo. Dev Biol. 1965;12:79-92.
6. Coulombre JL, Coulombre AJ. Lens development, IV: Size, shape and orientation. Invest Ophthalmol. 1969;8:251-257.
7. Coulombre AJ, Coulombre JL. Lens development, I: Role of the lens in eye growth. J Exp Zool. 1964; 156:39-48.
8. Breitman ML, Bryce DM, Giddens E, et al. Analysis of lens cell fate and eye morphogenesis in transgenic mice ablated for cells of the lens lineage. Development. 1989;106:457-463.
9. Klein KL, Klintworth GK, Bernstein A, Breitman ML. Embryology and morphology of microphthalmia in transgenic mice expressing a gamma F-crystallin/diphtheria toxin A hybrid gene. Lab Invest. 1992-67:31-41.
10. Hogan BLM, Hirst EM, Horsburgh G, Hetherington CM. Small eye (Sey): a mouse model for the genetic analysis of craniofacial abnormalities. Development. 1988;103:115-119.
11. Hanson IM, Fletcher JM, Jordan T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet. 1994;6:168-173.
12. Theiler K, Varnum DS. Development of coloboma (Cw/+), a mutation with anterior lens adhesion. Anat Embryol. 1981;162:121-126.
13. Hess EJ, Collins KA, Copeland NG, Jenkins NA, Wilson MC. Deletion map of the coloboma (Cm) locus on mouse chromosome 2. Genomics. 1994;21:257-261.
14. Sanyal S, Hawkins RK. Dysgenetic lens (dyl): a new gene in the mouse. Invest Ophthalmol Vis Sci. 1979;18:642-645.
15. Sanyal S, van Nie R, De Moes J, Hawkins RK. Map position of dysgenetic lens (dyl) locus on chromosome 4 in the mouse. Genet Res Camb. 1986;48:199-200.
16. Zwaan J. Immunofluorescent studies on aphakia, a mutation of a gene involved in the control of lens differentiation in the mouse embryo. Devel Biol. 1975;44:306-312.
17. Ton CCT, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991;67:1059-1074.
18. Hill RE, Favor J, Hogan BLM, et al. Mouse Small eye results from mutations in a paired-like homeobox-containing gene. Nature. 1991:354:522-525.
19. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992;2:232-239.
20. Jordan T, Hanson I, Zaletayev D, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet. 1992;1:328-332.
21. Halder G, Callaerts P, Gehring WJ. Induction of ectopic eyes by targeted expression of the eyeless gene in Drosopbila. Science. 1995:267:1788-1792.
22. Waring GO, Rodrigues MM, Laibson PR. Anterior chamber cleavage syndrome. A stepladder classification. Surv Ophthalmol. 1975;20:3-27.
23. Churchill A, Anwar R, Markham AF. PAX6, aniridia and Peters' anomaly [ARVO Abstract]. Invest Optjthalmol Vis Sci. 1997;38(4): S25. Abstract nr 112.
24. Holmström GE, Reardon WP, Daraitser M, Elston JS, Taylor DS. Heterogeneity in dominant anterior segment malformations. Br J Ophthalmol. 1991;75:591-597.
25. Murray JC, Bennet SR, Kwitek AE, et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992;2:46-49.
26. Philips JC, Del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996; 59:613-619.
27. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related transcription factor gene. RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392-399.
28. Gage P, Camper SA. Pituitary homeobox2, a novel member of the obicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum Mol Genet. 1997;6:457-464.
29. Héon E, Sheth BP, Kalenak JW, et al. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet. 1995;4:1435-1439.
30. Alward WLM, Semina EV, Kalenak JW, et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Opbtbalmol. 1998;125:98-100.
31. Ceci JD. Mouse chromosome 8. Mamm Genome. 1996;6(suppl): S151-S169.
32. Ferrell RE, Hittner HM, Kretzer FL, Antoszyk JH. Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. Am J Hum Genet. 1982;34:245-249.
33. Hittner HM, Kretzer FL, Antoszyk JH, Ferrell RE, Mehta RS. Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Am J Opbtbalmol. 1982;93:57-70.
34. DeBry RW, Seidin MF. Mouse/human homology relationships. Genomtcs. 1996;33:337-351.