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)

The Nonobese Diabetic mouse (NOD mouse) is an established model of autoimmune diabetes mellitus. While all colonies of NOD mice are derived from a single diabetic female detected during the breeding of a cataract-prone strain of mice, some of the dispersed colonies have been separated for many generations and express varying levels of diabetes. It is unclear to what extent this is due to environmental factors such as diet factor or a result of the varied origins of the colonies. Here we compare the incidence of diabetes and severity of insulitis in two divergent lines of NOD mice that differ in incidence of disease, but are maintained in the same environment. F1 crosses were performed and the progeny found to express the disease incidence of the low incidence line. This finding is consistent with either a dominant resistance gene(s) being responsible for reduced penetrance of disease or a transmissible environmental agent reducing the severity of the autoimmune process.
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PMID:High and low diabetes incidence nonobese diabetic (NOD) mice: origins and characterisation. 166 48

In the study of the lens of a congenital cataractous mouse mutant (CAT), it has been shown that a loss of growth regulation at the cellular level causes gross lens abnormalities. The phenotypic characteristics of the cataractous mouse lens are similar to those seen in human congenital cataract and thus serves as a model system for medical research. In this present investigation, we have demonstrated that the abnormalities of the congenital cataractous lens can be rescued by forming chimaeras between DBA/2 (a noncataractous strain of mouse) and the CAT mutant. This report describes the histological, cellular and biochemical analysis of the resultant chimaeric eyes, and discusses possible mechanisms by which these results were achieved.
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PMID:Rescue of developmental lens abnormalities in chimaeras of noncataractous and congenital cataractous mice. 366 66

Raman spectra were measured for cac-strain mouse (Nakano mouse) lenses in the various stages of cataract formation. The spectra were compared with those of normal mouse lenses of the corresponding ages. A significant difference was observed in the intensity of the Raman band due to an OH stretching mode of lens water (3390 cm-1) between the spectra of cataractous lenses and those of normal lenses. The difference was already obvious in the very incipient stage of hereditary cataract and became more pronounced with cataract development. These observations clearly show that changes in lens water occur during cataractogenesis. We propose in this communication that the intensity change of the Raman band at 3390 cm-1 may be very useful for the diagnostic marker of cataractous signatures.
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PMID:An application of laser Raman spectroscopy to the study of a hereditary cataractous lens; on the Raman band for a diagnostic marker of cataractous signatures. 718 9

A novel cataract model was identified in the ddY strain (outbred colony) reared at Osaka Prefecture University. Opacity appeared as a white pinpoint focus in the unpigmented eyes of cataract mice at 6 weeks of age. All mice, fully viable and fertile, were bilaterally affected by the time they were 10 weeks of age. There were no gender differences in the incidence of cataracts. Histologically, 5-month-old cataract mice showed vacuolation of epithelial cells, disruption of lens fibers, and dislocation of the lens nucleus to the posterior lens cortex. To elucidate the mode of inheritance, heterozygous mutant hybrids between cataract mice and wild-type ddY mice, as well as offspring between the heterozygous mutants, were analyzed. No affected mice were observed among the heterozygous mutants, and the ratio of affected to unaffected mice was 1:3 among offspring between heterozygous mutants. For linkage analysis, we produced backcross progeny [cataract mouse x (cataract mouse x MSM/Ms mouse)], and concluded that the cataracts are inherited by an autosomal recessive gene. Moreover, the locus of the cataract gene, mct, was mapped to the 3.91 cM region encompassed by D2Mit467 and D2Mit320 on mouse chromosome 2 by linkage analysis. Thus, the present cataract mice represent a novel cataract mouse model, and have been designated Morioka cataract (MCT) mice.
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PMID:Novel cataract mouse model using ddY strain: hereditary and histological characteristics. 1994 11

The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2(p)); however, the molecular genetic lesion underlying the original Oca2(p) allele has never been reported. The NCT mouse (commonly known as Nakano cataract mouse) has a pink-eyed dilution phenotype, which prompted us to undertake a molecular genetic analysis of the Oca2 gene of this strain. Our genetic linkage analysis suggests that the locus for the pink-eyed dilution phenotype of NCT is tightly linked to the Oca2 locus. PCR cloning and nucleotide sequence analysis indicates that the NCT mouse has a nonsense nucleotide substitution at exon 7 of the Oca2 gene. Examination of three mouse strains (NZW/NSlc, SJL/J, and 129X1/SvJJmsSlc) with the original Oca2(p) allele revealed the presence of a nonsense nucleotide substitution identical to that in the NCT strain. RT-PCR analysis revealed that the Oca2 transcripts were absent in the skin of NCT mice, suggesting intervention of the nonsense-mediated mRNA decay pathway. Collectively, the data in this study indicate that the nonsense nucleotide substitution in the Oca2 gene underlies the Oca2(p) allele. Our data also indicate that the NCT mouse can be used not only as a cataract model, but also as a model for human type II oculocutaneous albinism.
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PMID:A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. 2573 9