Phenotypes Associated with This Genotype

Genotype
MGI:3849173

• Allelic Composition: Six1^Cwe/Six1^Cwe
• Genetic Background: C3HeB/FeJ-Six1^Cwe

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

hearing/vestibular/ear

absent incus ( J:149467 )

• at E16.5

abnormal cochlea morphology ( J:149467 )

• the cochlea is severely truncated and oval and round windows are absent compared to in wild-type mice

decreased cochlear inner hair cell number ( J:149467 )

• at E16.5, development of hair cells is disrupted compared to in wild-type mice

• at P21, utricles exhibit few hair cells unlike in wild-type mice

• at P21, mice lack sensory hair cells in the cristae ampulari and rudimentary cochlea unlike in wild-type mice

• however, the utricle contained a small patch of scattered hair cells

abnormal inner ear canal morphology ( J:149467 )

• ear canals are thin or truncated compared to in wild-type mice

• the anterior canal is truncated at the ampullar end unlike in wild-type mice

abnormal common crus morphology ( J:149467 )

• broadened

absent lateral semicircular canal ( J:149467 )

abnormal crista ampullaris morphology ( J:149467 )

• the posterior crista ampularis is absent

small utricle ( J:149467 )

small vestibular saccule ( J:149467 )

inner ear hypoplasia ( J:149467 )

behavior/neurological

absent pinna reflex ( J:149467 )

impaired righting response ( J:149467 )

limb grasping ( J:149467 )

• when held by their tail, mice curl up towards their belly and displayed jiggling behavior unlike wild-type mice

head shaking ( J:149467 )

• extreme

circling ( J:149467 )

growth/size/body

decreased body size ( J:149467 )

decreased body weight ( J:149467 )

renal/urinary system

renal hypoplasia ( J:149467 )

• 41% of mice exhibit a unilateral hypoplastic kidney

craniofacial

absent incus ( J:149467 )

• at E16.5

skeleton

absent incus ( J:149467 )

• at E16.5

nervous system

decreased cochlear inner hair cell number ( J:149467 )

• at E16.5, development of hair cells is disrupted compared to in wild-type mice

• at P21, utricles exhibit few hair cells unlike in wild-type mice

• at P21, mice lack sensory hair cells in the cristae ampulari and rudimentary cochlea unlike in wild-type mice

• however, the utricle contained a small patch of scattered hair cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
branchiootorenal syndrome		DOID:14702		J:149467