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Targeted Allele Detail
Symbol: Cryabtm1.1Ady
Name: crystallin, alpha B; targeted mutation 1.1, Usha P Andley
MGI ID: MGI:4999580
Synonyms: alphaB-R120G
Gene: Cryab  Location: Chr9:50752758-50756633 bp, + strand  Genetic Position: Chr9, 27.75 cM
Germline Transmission:  Earliest citation of germline transmission: J:171679
Parent Cell Line:  SCC10 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsExon 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)
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 Cryab Mutation:  3 strains or lines available
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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.06
The Jackson Laboratory