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Cryba2Aca30
Chemically induced Allele Detail
Summary
Symbol: Cryba2Aca30
Name: crystallin, beta A2; ACMaster abnormality 30
MGI ID: MGI:4950379
Synonyms: Aca30, Cryba2A
Gene: Cryba2  Location: Chr1:74929093-74932302 bp, - strand  Genetic Position: Chr1, 38.54 cM
Alliance: Cryba2Aca30 page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to C transition in exon 2 that results in the amino acid substitution of proline for serine at position 47 (S47P). (J:171541)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Cryba2 Mutation:  17 strains or lines available
References
Original:  J:171541 Puk O, et al., First Mutation in the {beta}A2-crystallin Encoding Gene is Associated with Small Lenses and Age-Related Cataracts. Invest Ophthalmol Vis Sci. 2011 Apr;52(5):2571-6
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory