KATNAL1

Cilia effects upon perturbation of KATNAL1

Loss-of-function effect:

Abnormal / altered cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• 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]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

pallor, preweaning lethality, complete penetrance, abnormal spleen morphology, enlarged lymph nodes, preweaning lethality, incomplete penetrance, enlarged uriry bladder, abnormal skin morphology, decreased mean corpuscular volume, increased mean corpuscular hemoglobin concentration

Subcellular localization

basal body, cilia

References: PMID:22654668, PMID:28373692

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Metabolism
• Reproduction & sperm
• Cilia length regulation

Function

Role in neuronal migration, neuronal morphology and ependymal ciliary function (28373692). Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility (22654668) Furthermore we demonstrate defects in the motile cilia of the ventricular ependymal cells of mutants, suggesting a role for Katnal1 in the development of ciliary function. We found that the ciliary beat frequency (CBF) of Katnal1¹ᴴ/¹ᴴ animals was significantly attenuated compared to wild-type (CBF: wildtype = 22.39 ± 0.94 Hz, Katnal1¹ᴴ/¹ᴴ = 14.25 ± 0.92 Hz, P = 0.0001). Cilia measurements showed no significant differences in average cilia length between genotypes (average cilia length: wild type = 6.22 ± 0.86 µm, Katnal1¹ᴴ/¹ᴴ = 6.54 ± 0.94 µm, P = 0.303). However in Katnal1¹ᴴ/¹ᴴ samples we noted the presence of both long and short cilia … ciliary abnormalities including bifurcated cilia, abnormal kinks & bends, and swellings along the length of the cilia. (28373692)