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Allele : Pnp<m2Btlr> purine-nucleoside phosphorylase; mutation 2, Bruce Beutler

Primary Identifier  MGI:6199974 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Pnp
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to A transversion at base pair 50,951,506 (v38) on chromosome 14, or base pair 7,204 in the GenBank genomic region NC_000080 encoding Pnp. The mutation corresponds to residue 1,035 in the mRNA sequence NM_013632 within exon 5 of 6 total exons. The mutation results in substitution of leucine 252 for a premature stop codon (L252*) in the PNP protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • Porch2,
  • Porch2
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories