About   Help   FAQ
Cryaatm1.1Ady
Targeted Allele Detail
Summary
Symbol: Cryaatm1.1Ady
Name: crystallin, alpha A; targeted mutation 1.1, Usha P Andley
MGI ID: MGI:3777403
Synonyms: alpha-R49C knock-in
Gene: Cryaa  Location: Chr17:31896905-31900704 bp, + strand  Genetic Position: Chr17, 17.09 cM, cytoband A3-B
Alliance: Cryaatm1.1Ady page
Lens opacity in Cryaatm1.1Ady/Cryaa+, and Cryaatm1.1Ady/Cryaatm1.1Ady mice and microphthalmia in Cryaatm1.1Ady/Cryaatm1.1Ady mice

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:132296
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
 
Mutation detailsThe codon for arginine 49 was altered to cysteine by homologous recombination. A loxP flanked neomycin cassette was introduced between exon 1 and 2, then subsequently was deleted by crossing with cre expressing transgenic mice. Mass spectrometry analyses confirmed alpha-R49C mutant protein expression in the mutant lenses. (J:132296)
Generation of the Cryaatm1Ady anad Cryaatm1.1Ady alleles
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cryaa Mutation:  14 strains or lines available
References
Original:  J:132296 Xi JH, et al., Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell death. J Biol Chem. 2008 Feb 29;283(9):5801-14
All:  10 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
04/16/2024
MGI 6.23
The Jackson Laboratory