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Allele : Rag1<m3Btlr> recombination activating 1; mutation 3, Bruce Beutler

Primary Identifier  MGI:6286258 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Rag1
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4008
molecularNote  ENU-induced C to T transition at base pair 101,644,284 (v38) on chromosome 2, or base pair 5,249 in the GenBank genomic region NC_000068. The mutation corresponds to residue 637 in the mRNA sequence NM_009019 within exon 2 of 2 total exons. The mutation results in a proline to leucine substitution at position 171 (P171L) in the RAG1 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • dysfunctional,
  • dysfunctional
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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