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| Nomenclature |
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Symbol:
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Crybb2Aey2
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Name:
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crystallin, beta B2;
cortical and anterior suture opacity
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MGI ID: |
MGI:2137511 |
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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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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: A T-to-A transversion at position 553 (exon 6). This mutation is predicted to lead to a valine to glutamic acid substitution at codon 187, which may disrupt the formation of the fourth Greek key motif of the protein. (J:70508)
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Inheritance: | |
Dominant |
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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:70508
Graw J et al.,
"Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse."
Invest Ophthalmol Vis Sci 2001 Jun;42(7):1574-80
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All: |
1 reference(s)
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