title: The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion.
abstract: Cat4 is the second largest allelism group in the collection of mouse dominant eye mutations recovered in Neuherberg and carriers express anterior polar cataract, central corneal opacity, and lens-corneal adhesions. We have mapped the Cat4 locus of the mouse to central Chromosome (Chr) 8 at position cM 31. Histological characterization of Cat4(a) heterozygotes and homozygotes indicates failure of separation of the lens vesicle from the surface ectoderm. Human anterior segment ocular dysgenesis (ASOD) is autosomal dominant, carriers express an eye phenotype similar to that of Cat4(a) carriers, and it has been mapped to a region of 4q homologous to mouse central Chr 8. Thus, on the basis of phenotype and map position, Cat4 may be a mouse model of human ASOD. The genes Junb, Jund1, Mel, and Zfp42 are discussed as possible candidates for Cat4.
authors.affiliation: Institute of Mammalian Genetics, GSF-National Research Center for Environment and Health, Ingolstädter Landstr. 1, D-85764 Neuherberg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Favor
authors.forename: P
authors.initials: P
authors.lastname: Grimes
authors.forename: A
authors.initials: A
authors.lastname: Neuhäuser-Klaus
authors.forename: W
authors.initials: W
authors.lastname: Pretsch
authors.forename: D
authors.initials: D
authors.lastname: Stambolian
mesh_terms: D000818:Animals; D000869:Anterior Eye Segment / Q000002:abnormalities / Q000473:pathology; D002874:Chromosome Mapping; D003315:Cornea / Q000473:pathology* / Q000528:radiation effects; D003316:Corneal Diseases / Q000235:genetics*; D003318:Corneal Opacity / Q000235:genetics; D003433:Crosses, Genetic; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics*; D005720:Gamma Rays; D008040:Genetic Linkage; D005819:Genetic Markers; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007905:Lens Diseases / Q000235:genetics; D007908:Lens, Crystalline / Q000473:pathology; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009154:Mutation; D000267:Tissue Adhesions / Q000235:genetics
chemical_list: D005819:Genetic Markers