Pax3^Rwa
Spontaneous Allele Detail

Summary

• Symbol: Pax3^Rwa
• Name: paired box 3; Riken white A
• MGI ID: MGI:5662101
• Synonyms: Pax3^dl1Rmps
• Gene: Pax3 Location: Chr1:78077904-78173771 bp, - strand Genetic Position: Chr1, 39.79 cM
• Alliance: Pax3^Rwa page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• 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

Expression

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

Find Mice (IMSR)

• 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

References

• 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)