Pax6^Sey-Neu
Chemically induced Allele Detail

Summary

• Symbol: Pax6^Sey-Neu
• Name: paired box 6; small eye, Neuherberg
• MGI ID: MGI:1856158
• Synonyms: ENU-2029, Pax6-, Pax6^1-NeuSey, Pax6^Sey-1Neu, Pax6^Sey-Neu1, Sey^1N, Sey-neu, Sey^Neu
• Gene: Pax6 Location: Chr2:105499245-105527709 bp, + strand Genetic Position: Chr2, 55.31 cM
• Alliance: Pax6^Sey-Neu page

Mutation origin

• Strain of Origin: (102/El x C3H/Rl)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A G to T transversion at the +1 position of a splice donor site results in the retention of 116 nucleotides of intronic sequence in the encoded mRNA. The predicted protein would contain both the paired box and homeodomain but would lack the 115 amino acids from the C terminus, including the transactivation domain, due to a frameshift and stop codon in the intronic sequences remaining in the mRNA. (J:2301)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	183 assay results
In Structures Affected by this Mutation:	22 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 Pax6 Mutation: 94 strains or lines available

Notes

Chimeric mice created from BALB/c and Pax6^Sey/Sey-Neu exhibit reduction in lens and nasal epithelium tissue size, abnormal optic cup morphology and exclusion of Pax6^Sey/Sey-Neu cells from the lens, nasal epithelium and retinal pigmented epithelium (J:31747).

References

• Original: J:177480 Favor J, et al., The effect of dose fractionation on the frequency of ethylnitrosourea-induced dominant cataract and recessive specific locus mutations in germ cells of the mouse. Mutat Res. 1988 Apr;198(2):269-75
• All: 77 reference(s)