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Allele : Inpp5d<m5Btlr> inositol polyphosphate-5-phosphatase D; mutation 5, Bruce Beutler

Primary Identifier  MGI:6286237 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Inpp5d
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=3388
molecularNote  ENU-induced T to A transversion at base pair 87,699,675 (v38) on chromosome 1, or base pair or 79,364 in the GenBank genomic region NC_000067. The mutation corresponds to residue 1,874 in the mRNA sequence NM_010566 within exon 15 of 27 total exons. The mutation results in a leucine to glutamine substitution at amino acid 566 (L566Q) in the SHIP-1 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • pantone,
  • pantone
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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