Cryab^tm1.1Ady
Targeted Allele Detail

Summary

• Symbol: Cryab^tm1.1Ady
• Name: crystallin, alpha B; targeted mutation 1.1, Usha P Andley
• MGI ID: MGI:4999580
• Synonyms: alphaB-R120G
• Gene: Cryab Location: Chr9:50662625-50667936 bp, + strand Genetic Position: Chr9, 27.75 cM
• Alliance: Cryab^tm1.1Ady page

Eye and lens abnormalities in Cryab^tm1.1Ady/Cryab⁺ and Cryab^tm1.1Ady/Cryab^tm1.1Ady mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:171679
• Parent Cell Line: SCC10 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

Allele Type: Targeted (Humanized sequence) Mutations: Insertion, Single point mutation Mutation details: Exon 3 was replaced with one in which an A to G transition results in the amino acid transition of arginine to glycine at position 120 (R120G), mimicking a mutation associated with cataracts and desmin-related myopathy (DRM) in humans. Cre-mediated recombination removed the floxed neo cassette inserted downstream of the modified exon 3. (J:171679)

Generation of the Cryab^tm1.1Ady allele

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Cryab Mutation: 13 strains or lines available

References

• Original: J:171679 Andley UP, et al., A knock-in mouse model for the R120G mutation of alphaB-crystallin recapitulates human hereditary myopathy and cataracts. PLoS One. 2011;6(3):e17671
• All: 10 reference(s)