|  Help  |  About  |  Contact Us

Allele : Pax3<Sp-2H> paired box 3; splotch 2 Harwell

Primary Identifier  MGI:1856293 Allele Type  Radiation induced
Attribute String  Null/knockout Gene  Pax3
Inheritance Mode  Semidominant Strain of Origin  (C3H/HeH x 101/H)F1
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Sp<2H>,
  • Sp<2H>
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

37 Publication categories