All Phenotypes Eya1<tm1Rilm> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Eya1^tm1Rilm
targeted mutation 1, Richard Maas
MGI:2150426

Summary

22 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Eya1^tm1Rilm/Eya1^tm1Rilm	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	MGI:2677316
hm2	Eya1^tm1Rilm/Eya1^tm1Rilm	involves: 129 * C3HeB/FeJ	MGI:3812066
hm3	Eya1^tm1Rilm/Eya1^tm1Rilm	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297333
hm4	Eya1^tm1Rilm/Eya1^tm1Rilm	involves: 129S1/Sv * 129X1/SvJ	MGI:3603313
hm5	Eya1^tm1Rilm/Eya1^tm1Rilm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297327
ht6	Eya1^tm1Rilm/Eya1⁺	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c)	MGI:3054666
ht7	Eya1^tm1Rilm/Eya1⁺	involves: 129 * C3HeB/FeJ	MGI:3812068
ht8	Eya1^tm1Rilm/Eya1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3054668
ht9	Eya1^bor/Eya1^tm1Rilm	involves: 129 * C3HeB/FeJ	MGI:3812063
cx10	Eya1^tm1Rilm/Eya1^tm1Rilm Tbx1^tm1Bem/Tbx1⁺	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297338
cx11	Eya1^tm1Rilm/Eya1⁺ Tbx1^tm1Bem/Tbx1⁺	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5297336
cx12	Eya1^tm1Rilm/Eya1⁺ Sumo1^{Gt(RRQ016)Byg}/Sumo1⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3712507
cx13	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Rsd/Six1⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:2682362
cx14	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Rsd/Six1^tm1Rsd	involves: 129S1/Sv * 129X1/SvJ	MGI:2682361
cx15	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297328
cx16	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297329
cx17	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5297330
cx18	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715118
cx19	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ	MGI:3054670
cx20	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3054671
cx21	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715225
cx22	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715233

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm
Genetic Background	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:57313 )

• all homozygotes die at birth

craniofacial

abnormal cranium morphology ( J:57313 )

abnormal basisphenoid bone morphology ( J:57313 )

small cranium ( J:57313 )

abnormal pterygoid process morphology ( J:57313 )

abnormal hyoid bone morphology ( J:57313 )

• hyoid bone is malformed

abnormal hyoid bone lesser horn morphology ( J:57313 )

• lesser horns are malformed

abnormal jaw morphology ( J:57313 )

mandible hypoplasia ( J:57313 )

decreased maxillary shelf size ( J:57313 )

absent premaxilla ( J:57313 )

absent maxilla ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal zygomatic bone morphology ( J:57313 )

abnormal middle ear ossicle morphology ( J:57313 )

abnormal incus morphology ( J:57313 )

• the incus is present but malformed

absent malleus processus brevis ( J:57313 )

• the short process of the malleus is usually absent

absent stapes ( J:57313 )

• the stapes is usually absent

fusion of middle ear ossicles ( J:57313 )

• middle ear ossicles are frequently fused

abnormal palate development ( J:57313 )

• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen

preauricular pit ( J:57313 )

• preauricular pits are seen

cleft secondary palate ( J:57313 )

• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen

large nasal septum ( J:57313 )

• enlarged nasal septum

abnormal external auditory canal morphology ( J:57313 )

• the external auditory meati are absent or when present end blindly

absent external auditory canal ( J:57313 )

• atresia of the external auditory canal is seen

absent outer ear ( J:57313 )

anotia ( J:57313 )

• the auricles are missing or malformed

endocrine/exocrine glands

persistent ultimobranchial bodies ( J:79848 )

• unilateral or bilateral persistence of ultimobranchial bodies outside the thyroid gland is seen at E15.5

absent parathyroid glands ( J:57313 )

athymia ( J:57313 , J:79848 )

• organ primordia for the thymus are not seen at E12.0 (J:79848)

absent thyroid gland isthmus ( J:79848 )

• some mutants lack an isthmus in the thyroid gland

thyroid gland hypoplasia ( J:79848 )

• hypoplastic thyroid lobes with fewer calcitonin producing cells are seen

hearing/vestibular/ear

increased otic epithelial cell apoptosis ( J:57313 )

abnormal middle ear ossicle morphology ( J:57313 )

abnormal incus morphology ( J:57313 )

• the incus is present but malformed

absent malleus processus brevis ( J:57313 )

• the short process of the malleus is usually absent

absent stapes ( J:57313 )

• the stapes is usually absent

fusion of middle ear ossicles ( J:57313 )

• middle ear ossicles are frequently fused

abnormal external auditory canal morphology ( J:57313 )

• the external auditory meati are absent or when present end blindly

absent external auditory canal ( J:57313 )

• atresia of the external auditory canal is seen

absent outer ear ( J:57313 )

anotia ( J:57313 )

• the auricles are missing or malformed

absent auditory bulla ( J:57313 )

• tympanic bulla is absent

abnormal otic vesicle development ( J:57313 )

• the otic vesicle from which inner ear structures arise fails to form, associated with increased apoptosis

absent endolymphatic duct ( J:57313 )

• the endolymphatic duct is absent or malformed

absent inner ear ( J:57313 )

absent tympanic cavity ( J:57313 )

• the tympanic cavity does not form

abnormal tympanic membrane morphology ( J:57313 )

• the eardrums are malformed

decreased tympanic ring size ( J:57313 )

immune system

athymia ( J:57313 , J:79848 )

• organ primordia for the thymus are not seen at E12.0 (J:79848)

renal/urinary system

increased metanephric mesenchyme apoptosis ( J:57313 )

• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5

absent kidney ( J:57313 )

• bilateral kidney agenesis is seen in all homozygotes

absent ureter ( J:57313 )

• ureters are absent in all homozygotes due to failure of ureteric bud outgrowth and metanephric induction

absent ureteric bud ( J:57313 )

• the ureteric bud fails to form

skeleton

abnormal cranium morphology ( J:57313 )

abnormal basisphenoid bone morphology ( J:57313 )

small cranium ( J:57313 )

abnormal pterygoid process morphology ( J:57313 )

abnormal hyoid bone morphology ( J:57313 )

• hyoid bone is malformed

abnormal hyoid bone lesser horn morphology ( J:57313 )

• lesser horns are malformed

abnormal jaw morphology ( J:57313 )

mandible hypoplasia ( J:57313 )

decreased maxillary shelf size ( J:57313 )

absent premaxilla ( J:57313 )

absent maxilla ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal zygomatic bone morphology ( J:57313 )

abnormal middle ear ossicle morphology ( J:57313 )

abnormal incus morphology ( J:57313 )

• the incus is present but malformed

absent malleus processus brevis ( J:57313 )

• the short process of the malleus is usually absent

absent stapes ( J:57313 )

• the stapes is usually absent

fusion of middle ear ossicles ( J:57313 )

• middle ear ossicles are frequently fused

abnormal thyroid cartilage morphology ( J:57313 )

• lateral processes of the thyroid cartilage, which normally connect with the cricoid cartilage, are absent or malformed

abnormal sternocostal joint morphology ( J:57313 )

• T7 ribs do not fuse with the sternum

abnormal ischium morphology ( J:57313 )

• the ischium and pubis are fused at E18.5

abnormal pubis morphology ( J:57313 )

• the ischium and pubis are fused at E18.5

rib fusion ( J:57313 )

• ribs are fused bilaterally

cervical vertebral fusion ( J:57313 )

• the mutant atlas and axis are fused

vision/eye

eyelids open at birth ( J:57313 )

nervous system

abnormal geniculate ganglion morphology ( J:57313 )

• the geniculate ganglion is absent

absent petrosal ganglion ( J:57313 )

absent vestibular ganglion ( J:57313 )

embryo

increased metanephric mesenchyme apoptosis ( J:57313 )

• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5

abnormal first pharyngeal pouch morphology ( J:57313 )

• a persistent cleft of the first pharyngeal pouch is seen at E10.5

persistent ultimobranchial bodies ( J:79848 )

• unilateral or bilateral persistence of ultimobranchial bodies outside the thyroid gland is seen at E15.5

hematopoietic system

athymia ( J:57313 , J:79848 )

• organ primordia for the thymus are not seen at E12.0 (J:79848)

digestive/alimentary system

decreased maxillary shelf size ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal palate development ( J:57313 )

• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen

cleft secondary palate ( J:57313 )

• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen

respiratory system

large nasal septum ( J:57313 )

• enlarged nasal septum

abnormal thyroid cartilage morphology ( J:57313 )

• lateral processes of the thyroid cartilage, which normally connect with the cricoid cartilage, are absent or malformed

cellular

increased metanephric mesenchyme apoptosis ( J:57313 )

• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5

increased otic epithelial cell apoptosis ( J:57313 )

growth/size/body

decreased maxillary shelf size ( J:57313 )

decreased palatine bone horizontal plate size ( J:57313 )

abnormal palate development ( J:57313 )

• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen

preauricular pit ( J:57313 )

• preauricular pits are seen

cleft secondary palate ( J:57313 )

• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen

large nasal septum ( J:57313 )

• enlarged nasal septum

abnormal external auditory canal morphology ( J:57313 )

• the external auditory meati are absent or when present end blindly

absent external auditory canal ( J:57313 )

• atresia of the external auditory canal is seen

absent outer ear ( J:57313 )

anotia ( J:57313 )

• the auricles are missing or malformed

microcephaly ( J:57313 )

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

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm
Genetic Background	involves: 129 * C3HeB/FeJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

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

hearing/vestibular/ear

absent inner ear ( J:140027 )

• no inner ear structures form in these mice

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm
Genetic Background	involves: 129 * C57BL/6 * CD-1 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

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

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• about 80% of embryos show cardiovascular defects at E17.5 but none show the single outflow vessel phenotype seen in Tbx1-deficient or Eya1/Tbx1-double deficient embryos

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

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

hearing/vestibular/ear

increased otic epithelial cell apoptosis ( J:119574 )

• increased cell death in the otic epithelium is first noted at ~E9.0, with numerous apoptotic bodies found in the rims of the otic cup, as shown by TUNEL analysis

• at E9.5, increased cell death is apparent in the lateral wall of the otic vesicle, while a few apoptotic cells are also observed in the medial wall of the otic vesicle

• by E10.5, apoptotic cells are found throughout the otic vesicle

decreased otic epithelial cell proliferation ( J:119574 )

• at E8.5, the number of BrdU-labeled cells in the mutant otic placode is ~80% of wild-type embryos

• at E9.0 and E9.5, BrdU-positive cells are significantly reduced in the otic cup and vesicle, and are only 60% and 40% of wild-type embryos, respectively, in the otic placode

abnormal otic vesicle development ( J:119574 )

small otic vesicle ( J:119574 )

• at E11.5, homozygotes show a significant size reduction of the otocyst relative to wild-type mice

abnormal inner ear morphology ( J:119574 )

• marker gene analyses at different stages indicate that primordia fated to form the endolymphatic duct are present but fail to outgrow normally

• at E12.5, homozygotes display two vesicle-like structures, with the one located medially showing strong Foxi1 expression in all 6 embryos examined, indicating that it is the endolymphatic duct/sac

absent cochlea ( J:119574 )

• at E10.5 to E11.5, all homozygotes lack visible development of the cochlea

abnormal lateral semicircular canal morphology ( J:119574 )

abnormal posterior semicircular canal morphology ( J:119574 )

absent inner ear vestibule ( J:119574 )

• at E10.5 to E11.5, all homozygotes lack visible development of the vestibule

abnormal endolymphatic duct morphology ( J:119574 )

• at E10.5 to E11.5, an abnormal vesicular structure is formed posteroventrally in 10 ears of 7 mutant embryos instead of a normal endolymphatic duct

• marker gene analysis indicates that development of endolymphatic duct is initiated but fails to form a normal structure

absent endolymphatic duct ( J:119574 )

• at E10.5 to E11.5, a normal outgrowth of the endolymphatic duct is absent in all 20 ears of 10 mutant embryos studied; narrower dorsal tips are observed

• paintfilling confirms absence of the outgrowth of endolymphatic duct in all 8 mutant ears analyzed

skeleton

abnormal temporal bone morphology ( J:119574 )

• at E12.5, the cartilage primordium of the temporal bone is severely affected

cellular

increased otic epithelial cell apoptosis ( J:119574 )

• increased cell death in the otic epithelium is first noted at ~E9.0, with numerous apoptotic bodies found in the rims of the otic cup, as shown by TUNEL analysis

• at E9.5, increased cell death is apparent in the lateral wall of the otic vesicle, while a few apoptotic cells are also observed in the medial wall of the otic vesicle

• by E10.5, apoptotic cells are found throughout the otic vesicle

decreased otic epithelial cell proliferation ( J:119574 )

• at E8.5, the number of BrdU-labeled cells in the mutant otic placode is ~80% of wild-type embryos

• at E9.0 and E9.5, BrdU-positive cells are significantly reduced in the otic cup and vesicle, and are only 60% and 40% of wild-type embryos, respectively, in the otic placode

craniofacial

abnormal temporal bone morphology ( J:119574 )

• at E12.5, the cartilage primordium of the temporal bone is severely affected

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

♀	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 Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

abnormal aortic arch morphology ( J:172023 )

• 78% if embryos display aortic arch defects

retroesophageal right subclavian artery ( J:172023 )

• in 23% of embryos

interrupted aortic arch, type b ( J:172023 )

• 54% of embryos show interrupted aortic arch type B defects (IAA-B)

vascular ring ( J:172023 )

• in 16% of embryos

craniofacial

abnormal craniofacial development ( J:172023 )

• craniofacial phenotypes are observed, but are milder than in Six1 null embryos

muscle

abnormal skeletal muscle morphology ( J:172023 )

• embryos have severely hypolplastic branchiomeric muscles

Allelic Composition	Eya1^tm1Rilm/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:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

♀	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

Allelic Composition	Eya1^tm1Rilm/Eya1⁺
Genetic Background	involves: 129 * C3HeB/FeJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:140027 )

increased cochlear inner hair cell number ( J:140027 )

• 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)

abnormal orientation of cochlear hair cell stereociliary bundles ( J:140027 )

• adult mice exhibit short and disorganized stereocilia bundles

decreased outer hair cell stereocilia number ( J:140027 )

• some of the outer hair cell bundles are missing in the middle and apical regions

decreased cochlea coiling ( J:140027 )

• 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

decreased vestibular hair cell number ( J:140027 )

• 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)

abnormal semicircular canal morphology ( J:140027 )

decreased posterior semicircular canal size ( J:140027 )

• 2 mice of 22 mice at E18.5 have truncated posterior semicircular canals

abnormal semicircular canal ampulla morphology ( J:140027 )

• 2 of 22 mice at E18.5 have truncated ampulla, one posteriorly and one anteriorly

decreased superior semicircular canal size ( J:140027 )

• 2 mice of 22 mice at E18.5 have truncated anterior semicircular canals

abnormal vestibular saccule morphology ( J:140027 )

• 5 of 22 mice at E18.5 have malformed cochlea

short endolymphatic duct ( J:140027 )

• 4 mice of 22 mice at E18.5 have a truncated endolymphatic duct

nervous system

increased cochlear inner hair cell number ( J:140027 )

• 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)

abnormal orientation of cochlear hair cell stereociliary bundles ( J:140027 )

• adult mice exhibit short and disorganized stereocilia bundles

decreased outer hair cell stereocilia number ( J:140027 )

• some of the outer hair cell bundles are missing in the middle and apical regions

decreased vestibular hair cell number ( J:140027 )

• 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)

Allelic Composition	Eya1^tm1Rilm/Eya1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

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

renal/urinary system

single kidney ( J:57313 )

• unilateral kidney agenesis was seen in 2 out of 11 mutants

hearing/vestibular/ear

decreased cochlea coiling ( J:119574 )

• 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

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 20 heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac

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

Allelic Composition	Eya1^bor/Eya1^tm1Rilm
Genetic Background	involves: 129 * C3HeB/FeJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^bor mutation (2 available); any Eya1 mutation (54 available)
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:140027 )

absent cochlea ( J:140027 )

• the cochlea of mice are all absent

decreased vestibular hair cell number ( J:140027 )

• one mouse had a total of 37 hair cells in the saccule while another had no visible hair cells

abnormal semicircular canal morphology ( J:140027 )

absent lateral semicircular canal ( J:140027 )

• only one semicircular canal that appears to be the anterior canal is present

absent posterior semicircular canal ( J:140027 )

• only one semicircular canal that appears to be the anterior canal is present

abnormal semicircular canal ampulla morphology ( J:140027 )

• all mice have an absent ampulla in the anterior and posterior sections

• all mice have a malformed ampulla in the lateral section

abnormal utricle morphology ( J:140027 )

• all mice have severely affected utricle

abnormal vestibular saccule morphology ( J:140027 )

• in the three of ten E18.5 mice that have a saccule, the saccule is severely malformed

absent vestibular saccule ( J:140027 )

• saccule are absent in 9 of 10 mice at E18.5

abnormal endolymphatic duct morphology ( J:140027 )

• half the mice are missing at least one endolymphatic duct

absent endolymphatic duct ( J:140027 )

• half the mice are missing at least one endolymphatic duct

nervous system

decreased vestibular hair cell number ( J:140027 )

• one mouse had a total of 37 hair cells in the saccule while another had no visible hair cells

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm Tbx1^tm1Bem/Tbx1⁺
Genetic Background	involves: 129 * C57BL/6 * CD-1 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)
Tbx1^tm1Bem mutation (1 available); any Tbx1 mutation (34 available)

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

Cardiovascular defects in mice with mutations of one or both copies of Eya1^tm1Rilm and Tbx1^tm1Bem

cardiovascular system

persistent truncus arteriosus ( J:172023 )

• 100% of embryos display a single outflow vessel

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Tbx1^tm1Bem/Tbx1⁺
Genetic Background	involves: 129 * C57BL/6 * CD-1 * SJL

Find Mice

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

Cardiovascular defects in mice with mutations of one or both copies of Eya1^tm1Rilm and Tbx1^tm1Bem

cardiovascular system

abnormal cardiovascular development ( J:172023 )

• about 73% of embryos show cardiovascular defects at E17.5

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Sumo1^{Gt(RRQ016)Byg}/Sumo1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)
Sumo1^{Gt(RRQ016)Byg} mutation (1 available); any Sumo1 mutation (66 available)

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

craniofacial

cleft secondary palate ( J:112841 )

• cleft palate occurs with 36% frequency (4/11 heterozygotes) compared to 8.7% in Sumo1 single heterozygotes

digestive/alimentary system

cleft secondary palate ( J:112841 )

• cleft palate occurs with 36% frequency (4/11 heterozygotes) compared to 8.7% in Sumo1 single heterozygotes

growth/size/body

cleft secondary palate ( J:112841 )

• cleft palate occurs with 36% frequency (4/11 heterozygotes) compared to 8.7% in Sumo1 single heterozygotes

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Rsd/Six1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)
Six1^tm1Rsd mutation (0 available); any Six1 mutation (18 available)

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

renal/urinary system

renal hypoplasia ( J:86619 )

• double heterozygotes display renal hypoplasia, not observed in single heterozygotes

single kidney ( J:86619 )

• double heterozygotes often display unilateral kidney ablation

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Rsd/Six1^tm1Rsd
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

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

renal/urinary system

absent kidney ( J:86619 )

muscle

abnormal epaxial muscle morphology ( J:86619 )

• at E17.5, double homozygotes display a severe reduction of epaxial muscles

absent hypaxial muscle ( J:86619 )

• at E17.5, double homozygotes show complete absence of all hypaxial muscles, with no detectable limb muscles

endocrine/exocrine glands

small pituitary gland ( J:86619 )

• at E17.5, double homozygotes show a 5-10-fold reduction in pituitary gland volume

pituitary gland hypoplasia ( J:86619 )

• at E17.5, in contrast to either single homozygote, double homozygotes display severe pituitary gland hypoplasia

nervous system

small pituitary gland ( J:86619 )

• at E17.5, double homozygotes show a 5-10-fold reduction in pituitary gland volume

pituitary gland hypoplasia ( J:86619 )

• at E17.5, in contrast to either single homozygote, double homozygotes display severe pituitary gland hypoplasia

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1^tm1Mair
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)
Six1^tm1Mair mutation (0 available); any Six1 mutation (18 available)

♀	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 Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

abnormal pulmonary artery morphology ( J:172023 )

• 14% of embryos display right sided pulmonary artery (RPA) and right-sided aortic arch (RAA) together

retroesophageal right subclavian artery ( J:172023 )

interrupted aortic arch, type b ( J:172023 )

• type B observed in 29% of embryos

right aortic arch ( J:172023 )

• observed in 43% of embryos

vascular ring ( J:172023 )

• in 29% of embryos

abnormal cardiac outflow tract development ( J:172023 )

• 100% of double homozygotes display outflow tract defects; most show multiple abnormalities

• about 70% of embryos have a single unseptated outflow vessel, with outflow valve containing 3 or 4 leaflets

persistent truncus arteriosus ( J:172023 )

• observed in 72% of embryos

double outlet right ventricle ( J:172023 )

• observed in 14% of embryos

craniofacial

abnormal craniofacial development ( J:172023 )

• embryos display more severe craniofacial defects than single Six1- or Eya1-deficient homozygotes

facial muscle hypoplasia ( J:172023 )

• muscles of facial expression are hypoplastic

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

muscle

abnormal skeletal muscle morphology ( J:172023 )

• embryos have severely hypolplastic branchiomeric muscles

facial muscle hypoplasia ( J:172023 )

• muscles of facial expression are hypoplastic

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

abnormal extraocular muscle morphology ( J:172023 )

• muscles are hypoplastic

cellular

increased apoptosis ( J:172023 )

• increased numbers of apoptotic cells are detected in the secondary heart field pharyngeal ectoderm and endoderm relative to controls

• apoptosis in pharyngeal mesenchymal cells derived from mesoderm or neural crest is significantly increased

decreased cell proliferation ( J:172023 )

• cell numbers in pharyngeal arches and outflow tracts are reduced relative to controls

digestive/alimentary system

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

vision/eye

abnormal extraocular muscle morphology ( J:172023 )

• muscles are hypoplastic

growth/size/body

facial muscle hypoplasia ( J:172023 )

• muscles of facial expression are hypoplastic

tongue muscle hypoplasia ( J:172023 )

• tongue muscle is hypoplastic

Allelic Composition	Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

♀	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 Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

retroesophageal right subclavian artery ( J:172023 )

• observed in 44% of embryos

interrupted aortic arch ( J:172023 )

• observed in 56% of embryos

vascular ring ( J:172023 )

• observed in 11% of embryos

abnormal cardiac outflow tract development ( J:172023 )

• 100% of compound mutants display outflow tract defects; most show multiple abnormalities

double outlet right ventricle ( J:172023 )

• observed in 33% of embryos

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1^tm1Mair
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

♀	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 Six1^tm1Mair and Eya1^tm1Rilm

cardiovascular system

retroesophageal right subclavian artery ( J:172023 )

• observed in 20% of embryos

right aortic arch ( J:172023 )

• type B observed in 33%

abnormal common carotid artery morphology ( J:172023 )

• 13% of embryos display duplicated left common carotid artery

abnormal cardiac outflow tract development ( J:172023 )

• 87% of compound mutants display outflow tract defects

double outlet right ventricle ( J:172023 )

• observed in 13% of embryos

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1^tm1Rilm mutation (1 available); any Eya1 mutation (54 available)
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (44 available)

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:119574 )

• 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

decreased cochlea coiling ( J:119574 )

• 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

abnormal semicircular canal morphology ( J:119574 )

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• 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

abnormal semicircular canal ampulla morphology ( J:119574 )

• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display significantly smaller or morphologically unidentifiable ampullae

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

small vestibular saccule ( J:119574 )

• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display smaller or malshaped sacculae

short endolymphatic duct ( J:119574 )

• at E17.5, 2 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a truncated endolymphatic duct/sac

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Find Mice

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

renal/urinary system

renal hypoplasia ( J:83432 )

• 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

absent kidney ( J:83432 )

• bilateral (5/21) kidney agenesis was seen on a 129 background

single kidney ( J:83432 )

• unilateral (1/21) kidney agenesis was seen on a 129 background

abnormal ureteric bud morphology ( J:83432 )

impaired branching involved in ureteric bud morphogenesis ( J:83432 )

• the number of ureteric bud branches are decreased at E13.5

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

renal/urinary system

renal hypoplasia ( J:83432 )

• 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

single kidney ( J:83432 )

• unilateral (4/10) kidney agenesis was seen on a C57BL/6 background

abnormal ureteric bud morphology ( J:83432 )

impaired branching involved in ureteric bud morphogenesis ( J:83432 )

• the number of ureteric bud branches is decreased at E13.5

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

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

hearing/vestibular/ear

abnormal inner ear morphology ( J:119574 )

• at E17.5, double heterozygotes display an enhanced inner ear phenotype relative to each single heterozygous mutant animal

abnormal cochlea morphology ( J:119574 )

• at E17.5, 4 of 20 double heterozygous mutant inner ears (4 of 10 embryos) display a malformed cochlea

decreased cochlea coiling ( J:119574 )

• 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

abnormal semicircular canal morphology ( J:119574 )

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a truncated posterior semicircular canal

abnormal semicircular canal ampulla morphology ( J:119574 )

• 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

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display smaller or malshaped sacculae

short endolymphatic duct ( J:119574 )

• at E17.5, 3 of 20 double heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac

Allelic Composition	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Find Mice

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:119574 )

• 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

decreased cochlea coiling ( J:119574 )

• 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

abnormal semicircular canal morphology ( J:119574 )

• within the semicircular canals, a narrower lumen is observed in some areas

decreased lateral semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small lateral semicircular canal

decreased posterior semicircular canal size ( J:119574 )

• 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

abnormal semicircular canal ampulla morphology ( J:119574 )

• 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

decreased superior semicircular canal size ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small anterior semicircular canal

abnormal vestibular saccule morphology ( J:119574 )

• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small or malformed saccula

small vestibular saccule ( J:119574 )

short endolymphatic duct ( J:119574 )

• 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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