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Allele : Il2ra<M1J> interleukin 2 receptor, alpha chain; mutation 1, Jackson

Primary Identifier  MGI:6364029 Allele Type  Spontaneous
Attribute String  Hypomorph Gene  Il2ra
Inheritance Mode  Semidominant Strain of Origin  B6.129S4-Ccr2<tm1Ifc>/J
Is Recombinase  false Is Wild Type  false
molecularNote  This spontaneous point substitution of T-to-C at coding nucleotide 436 im exon 4 results in the replacement of a highly conserved tyrosine with histidine at position 146 (p.Y146H) in the SVHYECIP motif, which results in ER retention of this mutant protein and diminished cell surface expression.
  • mutations:
  • Single point mutation
  • synonyms:
  • mut,
  • mut
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele