Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy

Abstract

An autosomal recessive mutation (aht) associated with abnormal hair texture and cardiomyopathy spontaneously arose in the Y-chromosome consomic mouse strain DH-Chr Y^SS. The aht/aht mouse phenotypes closely resembled those of rul/rul mice, which were caused by a mutation in desmoplakin (Dsp) on chromosome 13. Quantitative trait locus (QTL) mapping using (DDD/Sgn × DH-Chr Y^SS-aht heterozygotes) F₂ mice demonstrated that aht is contiguous with Dsp on chromosome 13. However, no nucleotide changes were identified in the coding region of Dsp in aht/aht mice by whole-exome sequencing. Therefore, the molecular nature of the aht mutation remains unclear. Nevertheless, aht/aht mice may serve as a new model for human diseases that are accompanied by abnormalities in the integumental and cardiovascular systems, including Carvajal-Huerta syndrome.