Cryba1^Po1
Chemically induced Allele Detail

Summary

• Symbol: Cryba1^Po1
• Name: crystallin, beta A1; progressive opacity 1
• MGI ID: MGI:1857969
• Synonyms: AEY3
• Gene: Cryba1 Location: Chr11:77609441-77616109 bp, - strand Genetic Position: Chr11, 46.74 cM, cytoband B-C1
• Alliance: Cryba1^Po1 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is a T-to-A transversion at the second base of exon 6, altering this codon from a tryptophan to an arginine. The mutation also leads to an additional splicing signal, skipping the first 3 bp of exon 6 and deletion of the codon from the encoded mRNA. Both types of mRNA are present in homozygous mutant lenses. The fourth Greek key motif of the protein is predicted not to form as a result of these mutations. (J:58912)
• Inheritance: Semidominant

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cryba1 Mutation: 11 strains or lines available

References

• Original: J:58912 Graw J, et al., Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. Genomics. 1999 Nov 15;62(1):67-73
• All: 1 reference(s)