LRAT

Cilia effects upon perturbation of LRAT

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: Decreased cilia numbers
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.90, ciliated=15.5%) PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.76) PMID:20393562

Phenotypes

Mouse phenotype:

preweaning lethality, incomplete penetrance

Human ciliopathy phenotype:

Leber congenital amaurosis; retinitis pigmentosa; Leber congenital amaurosis 14

Ciliopathy associations

• Leber Congenital Amaurosis
• Retinal Dystrophy/Degeneration

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly

Function

LRAT has localized in cilia. KV ciliogenesis is disturbed in lpar3 morphants. atx and lpar3 morphants showed significantly reduced numbers of cilia … reduction in cilia volume. (23095890)