| 208449 |
Q8VCQ6 |
SMS1_MOUSE |
Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC 2.7.8.27) (Protein Mob) (Sphingomyelin synthase 1) (Transmembrane protein 23) |
DISRUPTION PHENOTYPE |
Null mice have hearing impairments with stria vascularis (SV) in these mice exhibiting atrophy and disorganized marginal cells resulting in significantly smaller endocochlear potentials (EPs). These decreased EPs, together with abnormal KCNQ1 expression patterns, increase with age. There is a decrease in plasma, liver, and macrophage sphingomyelin (59%, 45%, and 54%, respectively) and a dramatic increase in glycosphingolipids. No change in ceramide, total cholesterol, phospholipids nor triglycerides levels. Diminished macrophage MAP kinase and NFKB1 activation is observed. Atherosclerosis in SMS1(-/-)/LDLR(-/-) mice is significantly decreased. {ECO:0000269|PubMed:22580896, ECO:0000269|PubMed:22641779}. |