Pax6^Aey80
Chemically induced Allele Detail

Summary

• Symbol: Pax6^Aey80
• Name: paired box 6; abnormality of the eye 80
• MGI ID: MGI:5511011
• Gene: Pax6 Location: Chr2:105499245-105527709 bp, + strand Genetic Position: Chr2, 55.31 cM
• Alliance: Pax6^Aey80 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This small eye mutation was identified in offspring of ENU treated mice. A 141 bp insert was found in the mRNA between exons 7 and 8 as a result of a G to A transition at position 1171 in intron 7 4 bp downstream of a new splice site. Thirty new amino acids followed by 3 stop codons are encoded. The paired box domain remains intact but the homeodomain is lost in the resulting protein. (J:196657)

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

References

• Original: J:196657 Puk O, et al., Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon. Mol Vis. 2013;19:877-84
• All: 1 reference(s)