MGI:107476Mice homozygous for a null allele exhibit perinatal and postnatal lethality, with all mice dying by 2 weeks of age, and severe growth retardation. Heterozygosity for the p.R304W mutation reduces embryonic survival and adult longevity, affects muscle morphology and physiology, bone morphology, liver physiology, hematopoiesis, and immune cell development. It leads to reduced body size and weight, muscle weakness, bone weakness, bleeding disorder, skin abnormalities, and altered liver and blood chemistry.