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Allele : Abcg2<em1Omw> ATP binding cassette subfamily G member 2 (Junior blood group); endonuclease-mediated mutation 1, Owen M Woodward

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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Q140K+,
  • Q140K+
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele