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

Symbol:	Pax3Sp-2H
Name:	paired box 3; splotch 2 Harwell
MGI ID:	MGI:1856293
Synonyms:	Sp2H
Gene:	Pax3  Location: Chr1:78077904-78173771 bp, - strand  Genetic Position: Chr1, 39.79 cM
Alliance:	Pax3Sp-2H page

Strain of Origin:

(C3H/HeH x 101/H)F1

Allele Type:    Radiation induced (Null/knockout) Mutation:    Intragenic deletion   Mutation details: This allele comprises a deletion of 32 nucleotides, starting with the second base of phenylalanine codon 238 and ending with the complete threonine codon 248 (chr1:78108913-78108944 (GRCm39)). This deletion removes part of the paired homeodomain of the protein and creates a termination codon immediately downstream of alanine 237 (p.Phe238fs), resulting in a truncated protein that lacks its C-terminal half. The mutation was confirmed by Southern blots and both genomic- and RT-PCR. (J:2944) Inheritance:    Semidominant

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

In Mice Carrying this Mutation:	223 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Pax3 Mutation:	50 strains or lines available

Original:	J:14096 Beechey CV, et al., Mutations at the Sp locus. Mouse News Lett. 1986;75:28
All:	36 reference(s)