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Allele : Pmp22<Tr-2J> peripheral myelin protein 22; trembler 2 Jackson

Primary Identifier  MGI:5515890 Allele Type  Spontaneous
Gene  Pmp22 Inheritance Mode  Dominant
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  This spontaneous C-to-A transversion on chromosome 11 position 6,3151,168 (GRCm38) changes a codon in exon 4 and causes a serine to arginine substitution at amino acid 76 (p.S76R), which is in the second transmembrane domain.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele