Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

doi:10.1007/s00335-016-9619-x

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Article

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Apr 2016

Diener Susanne, Bayer Sieglinde, Sabrautzki Sibylle, Wieland Thomas, Mentrup Birgit, Przemeck Gerhard K H, Rathkolb Birgit, Graf Elisabeth, Hans Wolfgang, Fuchs Helmut, Horsch Marion, Schwarzmayr Thomas, Wolf Eckhard, Klopocki Eva, Jakob Franz, Strom Tim M, Hrabě de Angelis Martin, Lorenz-Depiereux Bettina

Abstract excerpt

We performed exome sequencing for mutation discovery of an ENU (N-ethyl-N-nitrosourea)-derived mouse model characterized by significant elevated plasma alkaline phosphatase (ALP) activities in female and male mutant mice, originally named BAP014 (bone screen alkaline phosphatase #14). We identified a novel loss-of-function mutation within the Fam46a (family with sequence similarity 46, member A) gene...

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PMID: 26803617
DOI: 10.1007/s00335-016-9619-x

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