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Targeted Allele Detail
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: Chr17:31677933-31681722 bp, + strand  Genetic Position: Chr17, 17.09 cM, cytoband A3-B
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.

Germline Transmission:  Earliest citation of germline transmission: J:132296
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
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
View phenotypes for all genotypes (concatenated display).
Disease models
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:  7 strains or lines available
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:  6 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory