Crybb2^Phil
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: Swiss Webster

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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)