About   Help   FAQ
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
Loading...
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/05/2024
MGI 6.24
The Jackson Laboratory