Chchd10^tm1.1Vpf

A c.164C>T point mutation changes serine codon 55 (TCA) to leucine codon TTA (p.S55L) in exon 3. This mutation is the equivalent of the p.S59L mutation found in some FTD-ALS (frontotemporal dementia-amyotrophic lateral sclerosis) patients. The self-excising loxP site flanked cre gene neomycin resistance gene cassette that was inserted into intron 3 was removed through cre-mediated recombination in male germinal cells. (J:293836)