Phenotypes Associated with This Genotype

Genotype
MGI:3054666

• Allelic Composition: Eya1^tm1Rilm/Eya1⁺
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)

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

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:57313 )

• morphological abnormalities of the ossicles are seen

abnormal stapes morphology ( J:57313 )

• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement

abnormal vestibular labyrinth morphology ( J:57313 )

• abnormalities in the vestibular portion of the membranous labyrinth are seen

increased or absent threshold for auditory brainstem response ( J:57313 )

• hearing loss was variable from ear to ear in individual animals (one heterozygote had normal hearing in one ear and >70 dB loss in the other); 8 animals had a severe hearing loss (threshold shifted by >50 dB between 15 and 32 kHz), whereas only 2 showed normal hearing

conductive hearing loss ( J:57313 )

• heterozygotes display some degree of hearing loss in at least one ear associated with abnormalities of the middle ear

• the stapes failed to contact the oval window because the VIIth cranial nerve passed abnormally between the stapes and the oval window or over the surface of the cochlea under the stapedial artery

renal/urinary system

renal hypoplasia ( J:57313 )

• unilateral or bilateral kidney hypoplasia was seen in 2 out of 25 mutants

skeleton

abnormal middle ear ossicle morphology ( J:57313 )

• morphological abnormalities of the ossicles are seen

abnormal stapes morphology ( J:57313 )

• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement

nervous system

cochlear ganglion degeneration ( J:57313 )

• atrophy of the spiral ganglion was seen in 2 out of 15 mutants

abnormal facial nerve morphology ( J:57313 )

• the VIIth cranial nerve passes abnormally between the stapes and oval window or over the surface of the cochlea

abnormal vestibulocochlear nerve morphology ( J:57313 )

• atrophy of the vestibulocochlear nerve was seen in 2 out of 15 mutants

craniofacial

abnormal middle ear ossicle morphology ( J:57313 )

• morphological abnormalities of the ossicles are seen

abnormal stapes morphology ( J:57313 )

• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
branchiootorenal syndrome		DOID:14702		J:57313