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Crybb2Aey2
Chemically induced Allele Detail
Summary
Symbol: Crybb2Aey2
Name: crystallin, beta B2; cortical and anterior suture opacity
MGI ID: MGI:2137511
Gene: Crybb2  Location: Chr5:113206124-113217983 bp, - strand  Genetic Position: Chr5, 55.38 cM
Alliance: Crybb2Aey2 page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA 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)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Crybb2 Mutation:  13 strains or lines available
References
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
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory