Mouse Genome Informatics
ht
    Eya1tm1Rilm/Eya1+
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hearing/vestibular/ear
• morphological abnormalities of the ossicles are seen
• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement
• abnormalities in the vestibular portion of the membranous labyrinth are seen
• 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
• 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
• unilateral or bilateral kidney hypoplasia was seen in 2 out of 25 mutants

skeleton
• morphological abnormalities of the ossicles are seen
• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement

nervous system
• atrophy of the spiral ganglion was seen in 2 out of 15 mutants
• the VIIth cranial nerve passes abnormally between the stapes and oval window or over the surface of the cochlea
• atrophy of the vestibulocochlear nerve was seen in 2 out of 15 mutants

craniofacial
• morphological abnormalities of the ossicles are seen
• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement

Mouse Models of Human Disease
OMIM IDRef(s)
Branchiootorenal Syndrome 1; BOR1 113650 J:57313