Phenotypes Associated with This Genotype

Genotype
MGI:5883223

• Allelic Composition: Otog^vbd/Otog^vbd
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal pinna reflex ( J:234038 )

• 2 of 20 mice at weaning age show abnormal Preyer reflex, with a further 10 becoming progressively unresponsive between 8 and 12 weeks of age, and all mice becoming unresponsive by 16 weeks

impaired righting response ( J:234038 )

• when mice are placed on their backs, they stay supine without trying to rotate to an upright position

impaired balance ( J:234038 )

• after 2 weeks of age, more than 90% of mice have a one side tilted head and show impaired balance

• when held by the tail and dropped onto a soft surface, mutants fall on their back or their sides instead of landing on their feet like wild-type mice, indicating a saccular defect

impaired swimming ( J:234038 )

• mutants are unable to swim or float properly, but remain submerged, completely disoriented, while turning under water

head tilt ( J:234038 )

• after 2 weeks of age, more than 90% of mice have a one side tilted head and show impaired balance

circling ( J:234038 )

• 10% of mice show a circulating behavior after P10 that persists into adulthood

nervous system

decreased vestibular hair cell stereocilia number ( J:234038 )

• stereocilia of the sensory hair cells are less numerous

hearing/vestibular/ear

decreased vestibular hair cell stereocilia number ( J:234038 )

• stereocilia of the sensory hair cells are less numerous

abnormal crista ampullaris morphology ( J:234038 )

• older (> P100) mice exhibit detached cupula in the crista ampullaris

• however, otoconia are preserved and the cochlea is normal

abnormal vestibular saccular macula morphology ( J:234038 )

• anomalies in the saccular macula

• only a few remnants of the otoconial membrane are present on saccular maculae

• however, the supporting cells at the base of the maculae are preserved

• numerous type I hair cells of the maculae have a shrunken nucleus

nonsyndromic hearing impairment ( J:234038 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 18B		DOID:0110474	OMIM:614945	J:234038