Pax6^Leca2
Chemically induced Allele Detail

Summary

• Symbol: Pax6^Leca2
• Name: paired box 6; lens corneal adhesion 2
• MGI ID: MGI:1934621
• Synonyms: Gena232, GENA 232
• Gene: Pax6 Location: Chr2:105499245-105527709 bp, + strand Genetic Position: Chr2, 55.31 cM
• Alliance: Pax6^Leca2 page

Mutation origin

• Strain of Origin: BALB/cAnN

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation underlying the phenotype in Leca2 mice was identified as a C to T substitution at nucleotide position 586 of the Pax6 gene. The mutation occurs in exon 7 and introduces the Arg142Cys change in the Paired box domain of the protein. (J:75964)
• Inheritance: Not Specified

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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 Pax6^Leca 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.

ENU-treated BALB/cAnN male mice were mated to wild-type C3H/HeN females and their F1 progeny screened for eye and vision defects. (J:75964)

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: 4 reference(s)