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| 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 |
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mice expressing a mutated COL1A1 gene exhibit phenotypic variability and incomplete penetrance of Osteogenesis imperfecta (Pereira et al, 1994) |
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transgenic mice with a targeted mutation in COL1A1 gene display ocular hypertension (Aihara et al, 2003) |