Col6a1 (collagen, type VI, alpha 1)

基因基本信息

Col6a1 基因表型（MGI）

Mice homozygous for a targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. Hetero- or homozygosity for the Ullrich congenital muscular dystrophy 1A associated p.G292R mutation leads to muscle fiber morphology abnormalities, causing decreased respiration, lower muscle weight and strength and muscle fibrosis.

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鼠来宝提供 Col6a1 相关基因敲除、条件敲除、人源化、点突变小鼠定制，以及配套动物实验、代养净化、检测研发服务。双繁育基地（鄂州葛店·广东佛山），标准化笼位 10 万+。