title: Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.
abstract: The Xcat mutation in the mouse, an X-linked inherited disorder, is characterized by the congenital onset of cataracts. The cataracts have morphologies similar to those of cataracts found in the human Nance Horan (X-linked cataract dental) syndrome, suggesting that Xcat is an animal model for Nance Horan. The Xcat mutation provides an opportunity to investigate, at the molecular level, the pathogenesis of cataract. As a first step to cloning the Xcat gene, we report the localization of the Xcat mutation with respect to known molecular markers on the mouse X chromosome. Back-cross progeny carrying the Xcat mutation were obtained from an interspecific cross. Genomic DNA from each mouse was subjected to Southern and PCR analysis to identify restriction fragment length polymorphisms and simple sequence length polymorphisms, respectively. Our results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the Xcat phenotype.
authors: Department of Ophthalmology, Scheie Eye Institute, School of Medicine, University of Pennsylvania, Philadelphia 19104.
authors: D
authors: D
authors: Stambolian
authors: J
authors: J
authors: Favor
authors: W
authors: W
authors: Silvers
authors: P
authors: P
authors: Avner
authors: V
authors: V
authors: Chapman
authors: E
authors: E
authors: Zhou
mesh_terms: D000818:Animals; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D004195:Disease Models, Animal; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D051379:Mice / Q000235:genetics*; D008817:Mice, Mutant Strains; D009115:Muridae / Q000235:genetics; D011110:Polymorphism, Genetic; D013577:Syndrome; D014960:X Chromosome