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Allele : Pax3<Sp-d> paired box 3; delayed splotch

Primary Identifier  MGI:1856174 Allele Type  Spontaneous
Gene  Pax3 Inheritance Mode  Semidominant
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  This mutation comprises a transversion mutation altering coding nucleotide 124 from a G to a C (c.124G>C), which results in a glycine to arginine substitution at position 42 of the protein (p.G42R). This position corresponds to the ninth amino acid of the paired domain. Northern blot analysis on RNA derived from homozygous mice demonstrated that mRNA levels were approximately 5 fold lower than wild-type.
  • mutations:
  • Single point mutation
  • synonyms:
  • Sp<d>,
  • Sp<d>,
  • Pax3<Spd>,
  • Splotch-delayed,
  • Pax3<Spd>,
  • Splotch-delayed
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

37 Publication categories