Table 1.

Abscission gene mutations cause microcephaly and other phenotypes in mouse and human.

Gene	Cep55	Kif20A (MKLP2)	Kif20B	Kif14	Citron Kinase (CitK)	Sept7
Abscission function	Recruit ESCRTs	Localize AurKB to MB	MT bundling	Localize CitK to MB	Maintain MB stability, Localize Kif14	Maintain furrow stability
Midbody localization	Central bulge, MBR	Flanks	Early MB: Flanks Late MB: CS	Central bulge, MBR	Central bulge, MBR	Central bulge, MBR?
NSC midbody Phenotype	Shorter, not misaligned	Unknown	Wider, misaligned	Unknown	Unknown	Unknown
Cortical thickness	↓	↓↓	↓↓	↓	↓	↓↓
NSC abscission Duration	Longer	Unknown	Shorter	Unknown	Patient-derived NPCs: longer duration	Unknown
Binucleate cells	Yes (mouse, human)	No	No	Unknown	Yes (mouse, rat, human)	No
Cell cycle exit	E12.5: ↑	E15.5: ↑	Unknown	Unknown	Unknown	E15.5: ↑
Apoptosis	↑↑	↑	↑	↑↑	↑↑	↑↑
Human syndromes	mcph, variable MCD, ID/DD, abnormal muscle tone, digits, kidney	Unknown	Unknown	mcph, variable MCD, ID/DD, abnormal digit, eye, kidney	mcph, variable MCD, ID/DD, short stature, abnormal muscle tone, kidney	Unknown
Refs	18, 20, 24, 29–31	28	21, 65	25–27, 32	22, 33–34	23, 35

Abbreviations: MB midbody, MBR midbody remnant CS constriction site, AurKB Aurora kinase B, mcph microcephaly, MCD malformations of cortical development, ID/DD intellectual disability/developmental delay