DTNBP1

Cilia effects upon perturbation of DTNBP1

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:

increased neutrophil cell number, decreased lymphocyte cell number, abnormal coat/hair pigmentation, decreased grip strength, abnormal iris pigmentation, increased leukocyte cell number, increased circulating phosphate level, increased fasting circulating glucose level, preweaning lethality, incomplete penetrance, developmental dysplasia, increased lymphocyte cell number

Mouse ciliopathy phenotype:

abnormal reti morphology, abnormal uterus morphology

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

The Dtnbp1sdy/sdy and Pldnpa/pa mouse phenotype strongly correlates with the biochemical and cell biology data and supports the conclusion that BLOC-1 is involved in trafficking polycystin-2 to primary cilia ( 28576874).