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| Nomenclature |
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Symbol:
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Cryba1Po1
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Name:
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crystallin, beta A1;
progressive opacity 1
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MGI ID: |
MGI:1857969 |
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Synonyms: |
AEY3 |
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Gene:
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Cryba1
Location:
Chr11:77718615-77725283 bp, - strand
Genetic Position: Chr11,
46.74 cM, cytoband B-C1
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Mutation
origin |
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Strain of Origin:
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C3HeB/FeJ
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: The mutation is a T-to-A transversion at the second base of exon 6, altering this codon from a tryptophan to an arginine. The mutation also leads to an additional splicing signal, skipping the first 3 bp of exon 6 and deletion of the codon from the encoded mRNA. Both types of mRNA are present in homozygous mutant lenses. The fourth Greek key motif of the protein is predicted not to form as a result of these mutations. (J:58912)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Cryba1 Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:58912
Graw J et al.,
"Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse."
Genomics 1999 Nov 15;62(1):67-73
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All: |
1 reference(s)
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Analysis Tools
