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Targeted Allele Detail
Symbol: Cryaatm1Ady
Name: crystallin, alpha A; targeted mutation 1, Usha P Andley
MGI ID: MGI:4437472
Synonyms: CryaaR49Cneo
Gene: Cryaa  Location: Chr17:31677933-31681722 bp, + strand  Genetic Position: Chr17, 17.09 cM, cytoband A3-B
Lens opacity in Cryaatm1Ady/Cryaa+, Cryaatm1Ady/Cryaatm1Ady, and Cryaatm1.1Ady/Cryaatm1.1Ady mice

Show the 7 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:    Insertion
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. The reduction in protein expression was confirmed by chromatography profile (30% in lens from heterozygous mice). (J:132296)
Generation of the Cryaatm1Ady anad Cryaatm1.1Ady alleles
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  2 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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MGI 6.04
The Jackson Laboratory