A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

Journal of Bone and Mineral Research

Volumn 18, Issue 9, 2003, Pages 1612-1621

  Donahue, Leah Rae ^a   Chang, Bo ^a   Mohan, Subburaman ^b   Miyakoshi, Nao ^b   Wergedal, Jon E ^b   Baylink, David J ^b   Hawes, Norman L ^a   Rosen, Clifford J ^a   Ward Bailey, Patricia ^a   Zheng, Qing Y ^a   Bronson, Roderick T ^a   Johnson, Kenneth R ^a   Davisson, Muriel T ^a  

^a JACKSON LABORATORY   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

Bone density; Cartilage; Chondrocyte; Collagen; Rodent

Indexed keywords

ARGININE; CYSTEINE;

AMINO ACID SUBSTITUTION; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BONE DEVELOPMENT; BONE RADIOGRAPHY; CARTILAGE; CELL CULTURE; CHROMOSOME 15; COL2AL GENE; FIBROGENESIS; GENE; HEARING LOSS; MISSENSE MUTATION; MOLECULAR MODEL; MORPHOMETRICS; MOUSE; NONHUMAN; PHENOTYPE; RETINOSCHISIS; SEDC GENE; SEQUENCE ANALYSIS; SPONDYLOEPIPHYSEAL DYSPLASIA;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; COLLAGEN TYPE II; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; FEMALE; GENES, RECESSIVE; GROWTH PLATE; HEARING LOSS; HUMANS; MALE; MICE; MICE, INBRED AKR; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; RETINOSCHISIS;

EID: 10744233690     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2003.18.9.1612     Document Type: Article

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