Abcg2^em1Omw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Abcg2^em1Omw
• Name: ATP binding cassette subfamily G member 2 (Junior blood group); endonuclease-mediated mutation 1, Owen M Woodward
• MGI ID: MGI:6726365
• Synonyms: Q140K+
• Gene: Abcg2 Location: Chr6:58561476-58669436 bp, + strand
• Alliance: Abcg2^em1Omw page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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. (J:292268)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Abcg2 Mutation: 74 strains or lines available

References

• Original: J:292268 Hoque KM, et al., The ABCG2 Q141K hyperuricemia and gout associated variant illuminates the physiology of human urate excretion. Nat Commun. 2020 Jun 2;11(1):2767
• All: 1 reference(s)