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Allele : Inpp5d<el20> inositol polyphosphate-5-phosphatase D; early lethal

Primary Identifier  MGI:5050823 Allele Type  Chemically induced (ENU)
Gene  Inpp5d Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  A T to C transition was found at nucleotide position 2099 (Genbank NM_010566) in ENU mutant mice. This should cause an isoleucine to threonine change at amino acid residue 641. An in-vitro 5'-phosphatase assay demonstrated reduced enzyme activity as compared to un-mutated controls. Protein levels were reduced in Western blots as were mRNA levels by qRT-PCR.
  • mutations:
  • Single point mutation
  • synonyms:
  • Ship1<el20>,
  • Ship1<el20>
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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