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

Symbol:	Pax3Rwa
Name:	paired box 3; Riken white A
MGI ID:	MGI:5662101
Synonyms:	Pax3dl1Rmps
Gene:	Pax3  Location: Chr1:78077904-78173771 bp, - strand  Genetic Position: Chr1, 39.79 cM
Alliance:	Pax3Rwa page

Strain of Origin:

C57BL/6N

Allele Type:    Spontaneous (Null/knockout) Mutations:    Duplication, Intragenic deletion   Mutation details: An 841 bp deletion spans from the proximal promoter region into intron 1. A 41 bp insertion, of which the first 39 bp are a duplication of intron 1 sequence downstream of the deletion site, takes the place of the deleted sequence. The deleted exon 1 contains the translation start site. RT-PCR indicates that aberrant transripts, containing intron 1 sequence, are transcribed from this allele. (J:241031) Inheritance:    Dominant

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

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pax3 Mutation:	50 strains or lines available

Original:	J:241031 Ohnishi T, et al., A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects. Gene. 2017 Apr 05;607:16-22
All:	1 reference(s)