Primary Identifier | MGI:6726365 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Abcg2 |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated an A to C change at position 220 resulting in a glutamine to lysine substitution at amino acid 140 (Q140K). This corresponds to the gout and hyperuricemia associated Q141K variant (SNP rs2231142) in humans. Western blot analysis of whole kidney lysate and jejunum homogenate shows reduced total abundance of the mutant protein in homozygous males, with a 44% decrease in kidney and 78% decrease in jejunum. |