Pax2^1Neu
Spontaneous Allele Detail

Summary

• Symbol: Pax2^1Neu
• Name: paired box 2; Neuherberg 1
• MGI ID: MGI:1857114
• Synonyms: K289, Pax2^1Neu
• Gene: Pax2 Location: Chr19:44744484-44826310 bp, + strand Genetic Position: Chr19, 38.09 cM
• Alliance: Pax2^1Neu page

Mutation origin

• Strain of Origin: 102

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: The mutation comprises an insertion of a single guanosine residue in a series of seven guanosine repeats in the paired box region of the Pax2 gene, resulting in a frameshift leading to a translation termination codon 26 amino acids downstream. This is identical to a mutation observed in a human family with autosomal dominant renal-coloboma syndrome. (J:37055)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	29 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 Pax2 Mutation: 44 strains or lines available

Notes

This spontaneous mutation was originally recovered in a (102 x C3H)F1 hybrid mouse.

References

• Original: J:37055 Favor J, et al., The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13870-5
• All: 11 reference(s)