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Phenotypes Associated with This Genotype
Genotype
MGI:3054666
Allelic
Composition
Eya1tm1Rilm/Eya1+
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (27 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Branchiootorenal Syndrome 1; BOR1 113650 J:57313


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory