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Ctnna1Tvrm5
Chemically induced Allele Detail
Summary
Symbol: Ctnna1Tvrm5
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: Ctnna1Tvrm5 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory