Ctnna1^Tvrm5
Chemically induced Allele Detail

Summary

• Symbol: Ctnna1^Tvrm5
• Name: catenin alpha 1; translational vision research model 5
• MGI ID: MGI:5689559
• Gene: Ctnna1 Location: Chr18:35251955-35387829 bp, + strand Genetic Position: Chr18, 18.89 cM
• Alliance: Ctnna1^Tvrm5 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• This ENU induced T to C transition results in a leucine to proline mutation at amino acid 436. (J:227177)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Ctnna1 Mutation: 133 strains or lines available

References

• Original: J:227177 Saksens NT, et al., Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb;48(2):144-51
• All: 3 reference(s)