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Allele : Clcn2<em1Uis> chloride channel, voltage-sensitive 2; endonuclease-mediated mutation 1, Ute Scholl

Primary Identifier  MGI:6849996 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Clcn2
Strain of Origin  C57BL/6N Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology introduced a C to T change at chr16:20,712,754 (GRCm38) resulting in an arginine to glutamine substitution at amino acid 180 (R180Q) in exon 5. The mouse R180Q is homologous to human R172Q that is commonly mutated in familial hyperaldosteronism type II.
  • mutations:
  • Single point mutation
  • synonyms:
  • Clcn2<R180Q>,
  • Clcn2<R180Q>
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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