Table 1.

Mouse models of human semicircular canal dysgenesis

Gene	Type of protein	Mouse inner ear defects	Human inner ear defects	References
Brn4 (Pou3f4)	Pou-domain transcription factor	ASC abnormalities	X-linked hereditary deafness type 3: Dysplasia of cochlea and semicircular canals and deafness	(69, 70)
Chd7	Chromodomain helicase DNA binding protein	LSC, PSC and associated crista abnormalities	CHARGE Syndrome: Outer and inner ear abnormalities including semicircular canal defects and deafness	(41, 42, 49)
Eya1	Transcription factor	ASC, PSC, LSC and associated crista absent	Branchio-oto-renal syndrome: Outer, Middle and Inner ear abnormalities and deafness	(71, 72)
Fgf3	Fibroblast growth factor	ASC, PSC and LSC abnormalities	Syndromic deafness: Inner ear agenesis and deafness	(73–75)
Fgf10	Fibroblast growth factor	ASC, PSC, LSC and associated crista abnormalities	LADD syndrome: Outer ear abnormalities, Inner ear abnormalities and deafness	(76, 77)
Jag1	Notch receptor ligand	ASC, PSC and LSC abnormalities	Alagille syndrome: Posterior semicircular canal defects	(51, 78)
Six1	Transcription factor	ASC, PSC and LSC absent	Branchio-oto-renal syndrome: Outer, Middle and Inner ear abnormalities and deafness	(79–81)

Abbreviations: ASC, anterior/superior semicircular canal; LSC, lateral semicircular canal; PSC, posterior semicircular canal.