ABI2

Cilia effects upon perturbation of ABI2

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.78) 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:

developmental dysplasia, decreased prepulse inhibition, dysplasia, abnormal semil vesicle morphology, absent uriry bladder, spermatogenesis defect, abnormal cornea morphology, decreased locomotor activity, hypospermia, abnormal iris morphology, abnormal iris pigmentation

Mouse ciliopathy phenotype:

abnormal reti morphology, small testis, increased circulating alanine transamise level

Subcellular localization

cilia associated gene, cytosol

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• T cell biology
• Reproduction & sperm
• Viral interactions
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

The Abi2 KO mice had small testes, which on histopathology showed testicular degeneration, marked, chronic, bilateral, multifocal vacuolation of the seminiferous tubular epithelium with hypocellularity, sparse spermatids, and very few spermatozoa tubular lumens, suggesting a failure in the maturation of sperm and subsequent immune-mediated degradation of the sperm leading to testicular atrophy. KO of Abi2 shows both eye and male reproductive abnormalities consistent with ciliopathies ( 36456625).