A new mutation at the cmd locus in the mouse

Abstract

A short limb dwarfing syndrome that arose in BALB/cGaBc inbred mice appeared to segregate as a Mendelian autosomal recessive lethal mutation. Anatomical and histological studies of newborns showed shortening and widening of most cartilaginous bones, shortening of the head, subcutaneous edema, and engorgement of liver with blood. Cartilage showed deficiency of acid mucopolysaccharide in the extracellular matrix and strain excessively for collagen. The primary cause of death at birth is probably the extremely compressed anterior thorax. The new mutation behaves as an allele of cartilage matrix deficiency (cmd) and is provisionally named cmdBc.