Expression data from primary osteoblasts isolated from calvaria of Gnptab(c.3082insC) knock-in mice compared with osteoblasts isolated from wild-type littermates

Mucolipidosis type II (MLII) is a severe inherited multisystemic disorder caused by mutations in the GNPTAB gene. Skeletal abnormalities are a predominant feature of MLII. Here we investigate the gene expression in a knock-in mouse model for mucolipidosis type II, generated by the insertion of a cytosine in the murine Gnptab gene (c.3082insC) that is homologous to a homozygous mutation in an MLII patient.

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Kollmann K, Pestka JM, Kühn SC, Schöne E, Schweizer M, Karkmann K, Otomo T, Catala-Lehnen P, Failla AV, Marshall RP, Krause M, Santer R, Amling M, Braulke T, Schinke T