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. |