SLMAP3

Cilia effects upon perturbation of SLMAP3

Cilia number / % ciliated:

Decrease

Loss-of-function effect:

Decrease

Phenotypes

Mouse phenotype:

Embryonic/perinatal lethality, polycystic kidneys, stunted growth, abnormal organs. Reduced ciliated cells and cilia length in MEFs and chondrocytes.

Mouse ciliopathy phenotype:

Polycystic kidneys, reduced cilia in MEFs and chondrocytes.

Subcellular localization

centrosome, cilia associated gene

Functional category

• Ciliary assembly/disassembly

Function

SLMAP3 KO mice show polycystic kidneys, reduced ciliated cells, and reduced cilia length in MEFs and chondrocytes. SLMAP3 is essential for organogenesis via primary cilia formation. STRIPAK complex member; centrosome constituent. Loss causes embryonic/perinatal lethality with polycystic kidney and PCP signaling defects (PMID:39417621).