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| Nomenclature |
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Symbol:
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CrygdLop12
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Name:
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crystallin, gamma D;
lens opacity 12
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MGI ID: |
MGI:1858026 |
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Synonyms: |
Lop12 |
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Gene:
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Crygd
Location:
Chr1:65061872-65063452 bp, - strand
Genetic Position: Chr1,
32.8 cM
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Mutation
origin |
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Strain of Origin:
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BALB/cJ x SJL/J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A G-to-A transition at nucleotide position 470 in exon 3 creates a premature termination signal and results in a truncated protein after amino acid 156. (J:60856)
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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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Notes |
Both homozygous and heterozygous mutant mice develop cataracts by one month of age. The catarats demonstrate prominent reactive fibrous proliferation surrounding extruded lens cortical fragments, accompanied by focal, mild lymphocytic infiltration. Homozygous mice have eyes that are smaller than wildtype, whereas the heterozygote mouse has an eye size that is intermediate (J:60856).
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| References |
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Original: |
J:60856
Smith RS et al.,
"Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract."
Genomics 2000 Feb 1;63(3):314-20
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All: |
3 reference(s)
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Analysis Tools
