title: Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene.
abstract: Mouse cartilage matrix deficiency (cmd) is an autosomal recessive mutation characterized by cleft palate, short limbs, tail and snout. Heterozygous mice show normal size and phenotype, while homozygous mice die just after birth due to respiratory failure. Biochemical and immunohistochemical characterization of cmd cartilage reveals normal levels of type II collagen and link protein, but an absence of the large cartilage proteoglycan, aggrecan. Here, we have mapped the aggrecan gene to a region of mouse chromosome 7 near the cmd locus. DNA sequencing of the aggrecan gene identified a 7 bp deletion in exon 5 resulting in a severely truncated molecule. The finding of an aggrecan mutation in the cmd mouse confirms the critical role of aggrecan in cartilage formation.
authors.affiliation: Laboratory of Developmental Biology, National Institute of Dental Research, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Kimata
authors.forename: S
authors.initials: S
authors.lastname: Line
authors.forename: D
authors.initials: D
authors.lastname: Strong
authors.forename: L Y
authors.initials: LY
authors.lastname: Gao
authors.forename: C A
authors.initials: CA
authors.lastname: Kozak
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
mesh_terms: D053674:Aggrecans; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002357:Cartilage Diseases / Q000235:genetics* / Q000378:metabolism; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D037181:Lectins, C-Type; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D011509:Proteoglycans / Q000172:deficiency / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C508320:Acan protein, mouse; D053674:Aggrecans; D016326:Extracellular Matrix Proteins; D037181:Lectins, C-Type; D011509:Proteoglycans; D004247:DNA