Cryaa^tm1.1Ady
Targeted Allele Detail

Summary

• Symbol: Cryaa^tm1.1Ady
• 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: Cryaa^tm1.1Ady page

Lens opacity in Cryaa^tm1.1Ady/Cryaa⁺, and Cryaa^tm1.1Ady/Cryaa^tm1.1Ady mice and microphthalmia in Cryaa^tm1.1Ady/Cryaa^tm1.1Ady 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 details: The 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 Cryaa^tm1Ady anad Cryaa^tm1.1Ady alleles

Disease models

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: 15 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)