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Pax6Leca3
Chemically induced Allele Detail
Summary
Symbol: Pax6Leca3
Name: paired box 6; lens corneal adhesion 3
MGI ID: MGI:1934632
Synonyms: Gena265, GENA 265
Gene: Pax6  Location: Chr2:105499245-105527709 bp, + strand  Genetic Position: Chr2, 55.31 cM
Alliance: Pax6Leca3 page
Mutation
origin
Strain of Origin:  (C3H/HeN x BALB/cAnN)F1
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation underlying the phenotype in Leca3 mice was identified as a C to A substitution at nucleotide position 1266 of the Pax6 gene. The mutation occurs in exon 12 and introduces the Tyr369STOP change in the PST domain of the protein. (J:75964)
Inheritance:    Not Specified
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Pax6 Mutation:  94 strains or lines available
Notes

The phenotype in the Pax6Leca allelic series (Leca 1-4) produced a range of similar but variable eye phenotypes, with slightly smaller eyes and occasional adhensions between the lens and cornea.

References
Original:  J:75964 Thaung C, et al., Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet. 2002 Apr 1;11(7):755-67
All:  1 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
11/12/2024
MGI 6.24
The Jackson Laboratory