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Spontaneous Allele Detail
Symbol: Pax21Neu
Name: paired box 2; Neuherberg 1
MGI ID: MGI:1857114
Synonyms: K289, Pax21Neu
Gene: Pax2  Location: Chr19:44756045-44837851 bp, + strand  Genetic Position: Chr19, 38.09 cM
Strain of Origin:  102
Allele Type:    Spontaneous
Mutation:    Insertion
Mutation detailsThe 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 for all genotypes (concatenated display).
Disease models
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:  28 strains or lines available
This spontaneous mutation was originally recovered in a (102 x C3H)F1 hybrid mouse.

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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.03
The Jackson Laboratory