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| Nomenclature |
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Symbol:
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Crybb2Phil
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Name:
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crystallin, beta B2;
Philly cataract
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MGI ID: |
MGI:1857342 |
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Gene:
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Crybb2
Location:
Chr5:113058258-113070117 bp, - strand
Genetic Position: Chr5,
55.38 cM
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Mutation
origin |
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Strain of Origin:
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Swiss Webster
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: A 12 bp in-frame deletion in the coding region of the gene resulted in the absence of amino acids 203-206 of the encoded protein. These amino acids are predicted to be required for either folding or stabilization of the protein. A total absence of a 27 kDa Beta-crystallin and its messenger RNA was shown, although other Beta-crystallins occur throughout the lens (J:8166). (J:6294, J:8166, J:11126)
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Inheritance: | |
Not Specified |
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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 Crybb2 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:6293
Kador PF et al.,
"Philly mouse: a new model of hereditary cataract."
Exp Eye Res 1980 Jan;30(1):59-68
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All: |
5 reference(s)
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Analysis Tools
