A Manually Curated Knowledgebase of Aging across a variety of Species

Details


Name H55N
Type somatic mutation
Species Mus musculus
Tissue strain
Experiment Method qPCR
Up/Down NA
Pro/Anti Pro
Funtion Description A nucleotide variant in exon 3 of Cs is the only known DNA difference within the ahl4 candidate gene interval that is unique to the A/J strain and that causes a nonsynonymous codon change. Multiple lines of evidence implicate this missense mutation (H55N)
Regulation Gene Cs
Year 2012
Pubmed ID 21803452
Title Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice
Drug NA
Disease age-related hearing loss
Environment Factors NA
Circulating NA
Variant somatic mutation
High-throughput NA