Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Pax21Neu
Name:	paired box 2; Neuherberg 1
MGI ID:	MGI:1857114
Synonyms:	K289, Pax21Neu
Gene:	Pax2  Location: Chr19:44744484-44826310 bp, + strand  Genetic Position: Chr19, 38.09 cM
Alliance:	Pax21Neu page

Strain of Origin:

102

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	29 anatomical structure(s)

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

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)