Pik3r1^tm1.1Geno
Targeted Allele Detail

Summary

• Symbol: Pik3r1^tm1.1Geno
• Name: phosphoinositide-3-kinase regulatory subunit 1; targeted mutation 1.1, Genoway
• MGI ID: MGI:6153554
• Synonyms: p85alpha^R649W
• Gene: Pik3r1 Location: Chr13:101817269-101904725 bp, - strand Genetic Position: Chr13, 53.92 cM
• Alliance: Pik3r1^tm1.1Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:234657
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:234657)

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pik3r1 Mutation: 55 strains or lines available

References

• Original: J:234657 Winnay JN, et al., PI3-kinase mutation linked to insulin and growth factor resistance in vivo. J Clin Invest. 2016 Apr 1;126(4):1401-12
• All: 3 reference(s)