KCNB1

Cilia effects upon perturbation of KCNB1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• 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

Human ciliopathy phenotype:

Intellectual disability

Subcellular localization

cilia

Functional category

• Signaling (Hedgehog, GPCRs, ion channels)

Function

kcnb1 mutation affected the transcription of genes that are involved in K+ metabolism, cell proliferation, cilia development, and intracellular protein trafficking. These results demonstrate a role for Kv2.1/Kcnb1 channels in development of the inner ear in zebrafish.The number of kinocilia significantly decreased (Fig. 4K-L, eight wildtype control and nine mutant embryos, data summarized from otic vesicles on both sides). In the 3 dpf kcnb1−/− mutants, kinocilia were abnormally short and disoriented (Fig. 4E–J). The total number of kinocilia in each crista decreased (Fig. 4M–O, eight wildtype control and nine mutant fish, data summarized from otic vesicles on both sides)(PMID: 33316259). KCNB1 has located to motile cilia.