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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: Chr9:50751325-50756636 bp, + strand  Genetic Position: Chr9, 27.75 cM
Eye and lens abnormalities in Cryabtm1.1Ady/Cryab+ and Cryabtm1.1Ady/Cryabtm1.1Ady mice

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

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)
Generation of the Cryabtm1.1Ady allele
View phenotypes and curated references 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:  8 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:  5 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 6.11
The Jackson Laboratory