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Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene

Nature Genetics volume 7, pages 154–157 (1994)Cite this article

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.

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Author notes

  1. Sergio Line

    Present address: Faculdade de Odentologia de Piracicaba av, Limeira 901, Caixa Postal 52, 13414-018, Piracicaba-SP, Brazil

Authors and Affiliations

  1. Laboratory of Developmental Biology, National Institute of Dental Research, Bethesda, Maryland, 20892, USA

    Hideto Watanabe, Sergio Line, Dave Strong, Luo-yi Gao & Yoshihiko Yamada

  2. Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi, 480-11, Japan

    Koji Kimata

  3. Laboratory of Molecular Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Christine A. Kozak

Authors
  1. Hideto Watanabe
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  4. Dave Strong
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  6. Christine A. Kozak
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  7. Yoshihiko Yamada
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Watanabe, H., Kimata, K., Line, S. et al. Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene. Nat Genet 7, 154–157 (1994). https://doi.org/10.1038/ng0694-154

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