Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new cataract model originated in a recombinant inbred (RI) strain, CXS4 or CXSD (D), between BALB/cHeA(BALB/c or C) and STS/A(STS or S) mice. Opacity appeared as a white pinpoint focus in unpigmented eyes of albino mice from 5 weeks old. All the mice were bilaterally affected by 14 weeks old. They were fully viable and fertile. There was no sex difference in incidence of cataract. Histologically, the 3-4 months old mice showed vacuoles in the lens cortex. The vacuoles were spread all over the lens cortex in advanced cases. Ruptures of the lens nucleus to the vitreous chamber was a typical occurrence. For elucidation of the mode of inheritance, F1 hybrids (CXD and SXD) and backcross progenies [(CXD)F1XD and (SXD)F1XD] were analysed. No affected mice were observed in F1 hybrids. In backcross progenies, the segregation ratio of affected and normal mice was close to 1:1 in both matings. We conclude that the cataract is inherited by an autosomal single recessive gene. This mutant gene is provisionally named 'lens rupture 2' (gene symbol 1r2, Mouse Genome Database Accession No. MGD-JNUM-37399). The new cataract model mouse will be a good tool for the genetic analysis and molecular biological study of cataractogenesis.
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PMID:A new hereditary cataract mouse with lens rupture. 935 Jul 10

A new strain of mice with cataracts was developed in BALB/cHeA and STS/A recombinant inbred strain, CXS4 (D). In this study the mapping of spontaneous autosomal recessive cataract mutation is described. This mutation was characterized by ruptures of the lens nucleus, vitreous chamber through the posterior capsule, and the vacuolization of the lens. For the linkage analysis, we produced two kinds of backcross progenies, (BALB/cHeA x D)F1 and (STS/A x D)F1 females crossed to D male mice. The gene (lr2, lens rupture2) was mapped to the central part of Chromosome(Chr) 14, 0.7 +/- 0.7 cM from the micosatellite marker D14Mit28.
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PMID:Mapping of new recessive cataract gene (lr2) in the mouse. 938 87

Cataract causing lr2 gene is found in the CXSD mouse, which is a recombinant inbred strain of BALB/c and STS mice. For the process of positional cloning of lr2, several candidate genes were selected in the middle region of chromosome 14, but most of them were excluded by combination of recombination and homozygosity mapping. Components of neurofilament proteins, neurofilament light polypeptide (Nefl) and neurofilament3 medium (Nef3), were linked to D14Mit87 which was not separated from the lr2 locus in the homozygosity mapping. When the expression levels of Nefl and Nef3 in eyes were compared in CXSD and BALB/c mice, there were no differences in expression levels. The cDNA sequences of the two genes from CXSD, BALB/c and STS mice were subsequently compared. Several nucleotide differences in cDNA sequences were detected between the mice strains but the majority of the changes were silent mutations that did not alter the amino acids. The sole amino acid difference, E567K in the glutamate rich region of Nfm, between BALB/c and CXSD was found to be a simple genetic polymorphism because the same substitution existed in STS, a non-cataract mouse strain. Therefore we excluded Nefl and Nef3 from the candidate genes for lr2 based on expression and mutation analyses.
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PMID:Fine localization of Nefl and Nef3 and its exclusion as candidate gene for lens rupture 2(lr2). 1529 2