| 233651 |
E9PVD3 |
PCD16_MOUSE |
Protocadherin-16 (Protein Dchs1) (Protein dachsous homolog 1) |
DISRUPTION PHENOTYPE |
Deficient mice exhibit postnatal lethality, growth retardation, small lungs, abnormal cochlea morphology, abnormal kidney morphology, cardiovascular abnormalities and skeletal abnormalities. DCHS1 and FAT4 single mutants and DCHS1/FAT4 double mutants have similar phenotypes. Heterozygous mice lacking one DCHS1 allele exhibit mitral valve prolapse with posterior leaflet elongation, leaflet thickening, and myxomatous degeneration with increased proteoglycan accumulation in both mitral leaflets (PubMed:26258302). {ECO:0000269|PubMed:21303848, ECO:0000269|PubMed:26258302}. |