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Allele : Pik3r1<tm1.1Geno> phosphoinositide-3-kinase regulatory subunit 1; targeted mutation 1.1, Genoway

Primary Identifier  MGI:6153554 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence Gene  Pik3r1
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A loxP-flanked exon 17 containing an arginine to tryptophan mutation at amino acid 649 and a neomycin selection cassette flanked by FRT sites replaced exon 17. Flp-mediated recombination removed the selection cassette, leaving a mutated exon 17 floxed. The R649W missense mutation is the most common mutation in SHORT syndrome affected individuals.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • p85alpha<R649W>,
  • p85alpha<R649W>
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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

6 Publication categories

Trail: Allele