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FLASH GENE
Symbol COL1A1 contributors: mct/npt/shn - updated : 14-04-2015
HGNC name collagen, type I, alpha 1
HGNC id 2197
ANIMAL & CELL MODELS
  • mice expressing a partially deleted COL1A1 gene have bones significantly shorter in length, a decrease in wet weight, mineral content and collagen content (Pereira et al, 1993)
  • mouse Aga2, with a dominant frameshift mutation in the Col1a1 C-propeptide domain, have OI phenotypic changes and endoplasmatic reticulum (ER) stress-related apoptosis in bone tissue
  • mice expressing a mutated COL1A1 gene exhibit phenotypic variability and incomplete penetrance of Osteogenesis imperfecta (Pereira et al, 1994)
  • transgenic mice with a targeted mutation in COL1A1 gene display ocular hypertension (Aihara et al, 2003)