Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Crybb2Phil
Name:	crystallin, beta B2; Philly cataract
MGI ID:	MGI:1857342
Synonyms:	Crybb2Phil/G
Gene:	Crybb2  Location: Chr5:113206124-113217983 bp, - strand  Genetic Position: Chr5, 55.38 cM
Alliance:	Crybb2Phil page

Strain of Origin:

Swiss Webster

Allele Type:    Spontaneous (Modified isoform(s)) Mutation:    Intragenic deletion   Mutation details: A 12 bp in-frame deletion in the coding region of the gene resulted in the absence of amino acids 203-206 of the encoded protein. These amino acids are predicted to be required for either folding or stabilization of the protein. A total absence of a 27 kDa Beta-crystallin and its messenger RNA was shown, although other Beta-crystallins occur throughout the lens (J:8166). (J:6294, J:8166, J:11126) Inheritance:    Not Specified

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Crybb2 Mutation:	13 strains or lines available

Original:	J:6293 Kador PF, et al., Philly mouse: a new model of hereditary cataract. Exp Eye Res. 1980 Jan;30(1):59-68
All:	6 reference(s)