Allele/Variant

Clcn2em1Uis

Species
Mus musculus
Symbol
Clcn2em1Uis
Category
allele
Allele of gene
Clcn2
Transgenic Constructs
None
Synonyms
  • Clcn2R180Q
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations