Pax3^Sp-2H
Radiation induced Allele Detail

Summary

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

Mutation origin

• Strain of Origin: (C3H/HeH x 101/H)F1

Mutation description

• 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

Disease models

Expression

In Mice Carrying this Mutation:	226 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	10 anatomical structure(s)

Find Mice (IMSR)

• 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

References

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