Analysis Tools|
Allele Symbol Allele Name Allele ID |
Eya1+ wild type MGI:2158231 |
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| Summary |
14 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• morphological abnormalities of the ossicles are seen
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• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement
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• abnormalities in the vestibular portion of the membranous labyrinth are seen
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• 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
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• 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
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• unilateral or bilateral kidney hypoplasia was seen in 2 out of 25 mutants
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• morphological abnormalities of the ossicles are seen
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• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement
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• atrophy of the spiral ganglion was seen in 2 out of 15 mutants
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• the VIIth cranial nerve passes abnormally between the stapes and oval window or over the surface of the cochlea
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• atrophy of the vestibulocochlear nerve was seen in 2 out of 15 mutants
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• morphological abnormalities of the ossicles are seen
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• the stapes fails to contact the oval window because of abnormal VIIth cranial nerve placement
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| branchiootorenal syndrome | DOID:14702 | J:57313 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there are slightly increased numbers of inner hair cells in the middle region of E18.5 embryos
• in the apex region, cochleae had many extra hair cells (nearly two rows of inner hair cells)
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• adult mice exhibit short and disorganized stereocilia bundles
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• some of the outer hair cell bundles are missing in the middle and apical regions
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• nine of 22 mice show shortened or/and malformed cochlea at E18.5
• one ear retained only about one-half turn and another ear retained about three-quarter turn
• majority of the affected ears lost around one-half turn of the cochlea
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• there is a slight but significant reduction in the number of hair cells found in the sacculle of mice (1508 vs. 1705 in wild-type)
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• 2 mice of 22 mice at E18.5 have truncated posterior semicircular canals
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• 2 of 22 mice at E18.5 have truncated ampulla, one posteriorly and one anteriorly
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• 2 mice of 22 mice at E18.5 have truncated anterior semicircular canals
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• 5 of 22 mice at E18.5 have malformed cochlea
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• 4 mice of 22 mice at E18.5 have a truncated endolymphatic duct
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• there are slightly increased numbers of inner hair cells in the middle region of E18.5 embryos
• in the apex region, cochleae had many extra hair cells (nearly two rows of inner hair cells)
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• adult mice exhibit short and disorganized stereocilia bundles
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• some of the outer hair cell bundles are missing in the middle and apical regions
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• there is a slight but significant reduction in the number of hair cells found in the sacculle of mice (1508 vs. 1705 in wild-type)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• unilateral kidney agenesis was seen in 2 out of 11 mutants
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• at E17.5, 17 of 20 heterozygous mutant inner ears (9 of 10 embryos) display a shortened cochlea with < 1.75 to ~1.5 turns, 3 of 20 (2 embryos) display < 1.5 to ~1.25 turns, and 1 innear ear (1 embryo) completes < 1.25 to ~1.0 turns; no less than 1.0 turns are observed
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• at E17.5, 2 of 20 heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| branchiootorenal syndrome | DOID:14702 | J:57313 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Cardiovascular defects in mice with mutations of one or both copies of Eya1tm1Rilm and Tbx1tm1Bem
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• about 73% of embryos show cardiovascular defects at E17.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cleft palate occurs with 36% frequency (4/11 heterozygotes) compared to 8.7% in Sumo1 single heterozygotes
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• cleft palate occurs with 36% frequency (4/11 heterozygotes) compared to 8.7% in Sumo1 single heterozygotes
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• cleft palate occurs with 36% frequency (4/11 heterozygotes) compared to 8.7% in Sumo1 single heterozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double heterozygotes display renal hypoplasia, not observed in single heterozygotes
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• double heterozygotes often display unilateral kidney ablation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Spectrum of abnormalities of great artery patterning in mice with null mutation of one or both copies of Six1tm1Mair and Eya1tm1Rilm
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• observed in 20% of embryos
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• type B observed in 33%
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• 13% of embryos display duplicated left common carotid artery
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• 87% of compound mutants display outflow tract defects
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• observed in 13% of embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E17.5, 4 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a malformed cochlea with enlarged and mal-shaped distal tips
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• at E17.5, 6 of 24 double heterozygous mutant cochleae (4 of 12 embryos) only reach 1 and 1.25 turns while 12 of 24 cochleae (8 of 12 embryos) coil between 1.5 and 1.75 turns
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• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small lateral semicircular canal
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• at E17.5, 2 of 24 double heterozygous mutant inner ears (1 of 12 embryos) show absence of the posterior ampullae and truncation of the posterior semicircular canals
• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small posterior semicircular canal
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• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display significantly smaller or morphologically unidentifiable ampullae
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• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small anterior semicircular canal
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• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display smaller or malshaped sacculae
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• at E17.5, 2 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a truncated endolymphatic duct/sac
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• unilateral (6/21) or bilateral (9/21) kidney hypoplasia was seen on a 129 background
• Background Sensitivity: hypoplasia is more severe on a 129 background than on a C57BL/6 background
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• bilateral (5/21) kidney agenesis was seen on a 129 background
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• unilateral (1/21) kidney agenesis was seen on a 129 background
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• the number of ureteric bud branches are decreased at E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• unilateral (6/14) or bilateral (4/14) kidney hypoplasia was seen on a C57BL/6 background
• Background Sensitivity: hypoplasia is more severe on a 129 background than on a C57BL/6 background
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• unilateral (4/10) kidney agenesis was seen on a C57BL/6 background
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• the number of ureteric bud branches is decreased at E13.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a severely malformed cochlea with severely malformed distal tips
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• at E17.5, 1 of 8 triple heterozygous mutant cochleae (1 of 4 embryos) coil between 1.0 and 1.25 turns, and 7 of 8 cochleae (4 of 4 embryos) coil less than 1.0 turn
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• within the semicircular canals, a narrower lumen is observed in some areas
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• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small lateral semicircular canal
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• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display a small posterior semicircular canal while 4 of 8 (3 of 4 embryos) show a truncated posterior semicircular canal
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• at E17.5, 4 of 8 triple heterozygous mutant inner ears (3 of 4 embryos) display significantly smaller posterior ampullae while 4 of 8 ears (3 of 4 embryos) lack posterior ampullae
• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller anterior ampullae
• at E17.5, 4 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display significantly smaller lateral ampullae
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• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small anterior semicircular canal
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• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small or malformed saccula
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• at E17.5, 2 of 8 triple heterozygous mutant inner ears (1 of 4 embryos) display a truncated endolymphatic duct/sac
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E17.5, double heterozygotes display an enhanced inner ear phenotype relative to each single heterozygous mutant animal
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• at E17.5, 4 of 20 double heterozygous mutant inner ears (4 of 10 embryos) display a malformed cochlea
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• at E17.5, 6 of 20 double heterozygous mutant cochleae (4 of 10 embryos) coil between 1.5 to 1.75 turns, 4 of 20 cochleae (3 of 10 embryos) coil between 1.25 and 1.5 turns, 5 of 20 cochlea (4 of 10 embryos) coil between 1.0 and 1.25 turns, and 4 of 20 cochleae (3 of 10 embryos) coil less than 1.0 turn
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• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small lateral semicircular canal
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• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a truncated posterior semicircular canal
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• at E17.5, 9 of 20 double heterozygous mutant inner ears (5 of 10 embryos) display significantly smaller posterior ampullae while 2 of 20 (1 of 10 embryos) lack posterior ampullae
• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display significantly smaller anterior ampullae
• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display significantly smaller lateral ampullae
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• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small anterior semicircular canal
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• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display smaller or malshaped sacculae
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• at E17.5, 3 of 20 double heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 01/20/2026 MGI 6.24 |
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