Article
Variable expression of Dkc1 mutations in mice.
Genesis (New York, N.Y. : 2000) - 1 Jun 2009
He Jun, Gu Bai-Wei, Ge Jingping, Mochizuki Yuko, Bessler Monica, Mason Philip J
Abstract excerpt
In humans mutations in DKC1, cause the rare bone marrow failure syndrome dyskeratosis congenita. We have used gene targeting to produce mouse ES cells with Dkc1 mutations that cause DC when in humans. The mutation A353V, the most common human mutation, causes typical DC to very severe DC in humans. Male chimeric mice carrying this mutation do not pass the mutated allele to their offspring. The mutation G402E...
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