A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice.
A genetic abnormality in collagen and elastin cross-linking resembling experimental lathyrism has been identified in mice. The defect is an X-linked trait, attributed to the mottled locus which also influences coat color. The affected mice have aneurysms of the aorta and its branches, weak skin, and bone deformities in a spectrum of severity varying with the alleles at the mottled locus. A defect in the cross-linking of collagen was demonstrated in the skin of the affected animals by a marked increase in collagen extractability and a reduced proportion of cross-linked components in the extracted collagen. A decrease in lysine-derived aldehyde levels was found in both skin collagen and aortic elastin similar to that found in lathyritic tissue. Furthermore the in vitro formation of lysine-derived aldehyde was reduced. Thus the cause of the connective tissue abnormalities in these mice appears to be a defect in cross-link formation due to an impairment in aldehyde formation.
D000818:Animals; D001014:Aortic Aneurysm / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D003094:Collagen / Q000032:analysis; D004549:Elastin; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D008297:Male; D051379:Mice; D012729:Sex Chromosome Aberrations; D012867:Skin / Q000032:analysis; D012868:Skin Abnormalities
D003094:Collagen; D004549:Elastin