About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Eya1tm1Rilm
targeted mutation 1, Richard Maas
MGI:2150426
Summary 23 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Eya1tm1Rilm/Eya1tm1Rilm 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
Eya1tm1Rilm/Eya1tm1Rilm involves: 129 * C3HeB/FeJ MGI:3812066
hm3
Eya1tm1Rilm/Eya1tm1Rilm involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297333
hm4
Eya1tm1Rilm/Eya1tm1Rilm involves: 129S1/Sv * 129X1/SvJ MGI:3603313
hm5
Eya1tm1Rilm/Eya1tm1Rilm involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5297327
ht6
Eya1tm1Rilm/Eya1+ either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * BALB/c) MGI:3054666
ht7
Eya1tm1Rilm/Eya1+ involves: 129 * C3HeB/FeJ MGI:3812068
ht8
Eya1tm1Rilm/Eya1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3054668
ht9
Eya1bor/Eya1tm1Rilm involves: 129 * C3HeB/FeJ MGI:3812063
cn10
Eya1tm1Rilm/Eya1tm1Rilm
Notch1tm2Rko/Notch1tm2Rko
Tg(SFTPC-rtTA)5Jaw/?
Tg(tetO-cre)1Jaw/?
involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5003200
cx11
Eya1tm1Rilm/Eya1tm1Rilm
Tbx1tm1Bem/Tbx1+
involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297338
cx12
Eya1tm1Rilm/Eya1+
Tbx1tm1Bem/Tbx1+
involves: 129 * C57BL/6 * CD-1 * SJL MGI:5297336
cx13
Eya1tm1Rilm/Eya1+
Sumo1Gt(RRQ016)Byg/Sumo1+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3712507
cx14
Eya1tm1Rilm/Eya1+
Six1tm1Rsd/Six1+
involves: 129S1/Sv * 129X1/SvJ MGI:2682362
cx15
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Rsd/Six1tm1Rsd
involves: 129S1/Sv * 129X1/SvJ MGI:2682361
cx16
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Mair/Six1tm1Mair
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5297328
cx17
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Mair/Six1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5297329
cx18
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1tm1Mair
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5297330
cx19
Eya1tm1Rilm/Eya1+
Pax2tm1Pgr/Pax2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3715118
cx20
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1+
involves: 129/Sv * 129S1/Sv * 129X1/SvJ MGI:3054670
cx21
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1+
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3054671
cx22
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1+
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3715225
cx23
Eya1tm1Rilm/Eya1+
Pax2tm1Pgr/Pax2+
Six1tm1Mair/Six1+
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3715233


Genotype
MGI:2677316
hm1
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
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:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all homozygotes die at birth

craniofacial
• hyoid bone is malformed
• lesser horns are malformed
• the incus is present but malformed
• the short process of the malleus is usually absent
• the stapes is usually absent
• middle ear ossicles are frequently fused
• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen
• preauricular pits are seen
• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen
• enlarged nasal septum
• the external auditory meati are absent or when present end blindly
• atresia of the external auditory canal is seen
• the auricles are missing or malformed

endocrine/exocrine glands
• unilateral or bilateral persistence of ultimobranchial bodies outside the thyroid gland is seen at E15.5
• organ primordia for the thymus are not seen at E12.0 (J:79848)
• some mutants lack an isthmus in the thyroid gland
• hypoplastic thyroid lobes with fewer calcitonin producing cells are seen

hearing/vestibular/ear
• the incus is present but malformed
• the short process of the malleus is usually absent
• the stapes is usually absent
• middle ear ossicles are frequently fused
• the external auditory meati are absent or when present end blindly
• atresia of the external auditory canal is seen
• the auricles are missing or malformed
• tympanic bulla is absent
• the otic vesicle from which inner ear structures arise fails to form, associated with increased apoptosis
• the endolymphatic duct is absent or malformed
• the tympanic cavity does not form
• the eardrums are malformed

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

renal/urinary system
• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5
• bilateral kidney agenesis is seen in all homozygotes
• ureters are absent in all homozygotes due to failure of ureteric bud outgrowth and metanephric induction
• the ureteric bud fails to form

skeleton
• hyoid bone is malformed
• lesser horns are malformed
• the incus is present but malformed
• the short process of the malleus is usually absent
• the stapes is usually absent
• middle ear ossicles are frequently fused
• lateral processes of the thyroid cartilage, which normally connect with the cricoid cartilage, are absent or malformed
• T7 ribs do not fuse with the sternum
• the ischium and pubis are fused at E18.5
• the ischium and pubis are fused at E18.5
• ribs are fused bilaterally
• the mutant atlas and axis are fused

vision/eye

nervous system
• the geniculate ganglion is absent

embryo
• the metanephric mesenchyme undergoes apoptosis, disappearing by E12.5
• a persistent cleft of the first pharyngeal pouch is seen at E10.5
• unilateral or bilateral persistence of ultimobranchial bodies outside the thyroid gland is seen at E15.5

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

digestive/alimentary system
• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen
• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen

respiratory system
• enlarged nasal septum
• lateral processes of the thyroid cartilage, which normally connect with the cricoid cartilage, are absent or malformed

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

growth/size/body
• on a C57BL/6 background abnormal fusion of the palatal shelves to the nasal septum is seen
• preauricular pits are seen
• on mixed 129 or 129 and BALB/c backgrounds cleft secondary palate is seen
• enlarged nasal septum
• the external auditory meati are absent or when present end blindly
• atresia of the external auditory canal is seen
• the auricles are missing or malformed

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




Genotype
MGI:3812066
hm2
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Genetic
Background
involves: 129 * C3HeB/FeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• no inner ear structures form in these mice




Genotype
MGI:5297333
hm3
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 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




Genotype
MGI:3603313
hm4
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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
• 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
• at E11.5, homozygotes show a significant size reduction of the otocyst relative to wild-type mice
• 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
• at E10.5 to E11.5, all homozygotes lack visible development of the cochlea
• at E10.5 to E11.5, all homozygotes lack visible development of the vestibule
• 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
• 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

respiratory system
• loss of distal lung epithelial progenitors from E14 - E14.5
• reduced epithelial branching
• increased epithelial differentiation
• reduced lung size

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

cellular
• the orientation of the mitotic spindle in distal lung epithelium cells is mostly parallel to the basement membrane as opposed to perpendicular in controls
• by E10.5, apoptotic cells are found throughout the otic vesicle
• 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
• loss of distal lung epithelial progenitors from E14 - E14.5
• 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
• at E12.5, the cartilage primordium of the temporal bone is severely affected




Genotype
MGI:5297327
hm5
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 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 Six1tm1Mair and Eya1tm1Rilm

cardiovascular system
• 78% if embryos display aortic arch defects
• 54% of embryos show interrupted aortic arch type B defects (IAA-B)
• in 16% of embryos

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

muscle
• embryos have severely hypolplastic branchiomeric muscles




Genotype
MGI:3054666
ht6
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 (4 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
DO ID OMIM ID(s) Ref(s)
branchiootorenal syndrome DOID:14702 J:57313




Genotype
MGI:3812068
ht7
Allelic
Composition
Eya1tm1Rilm/Eya1+
Genetic
Background
involves: 129 * C3HeB/FeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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)
• adult mice exhibit short and disorganized stereocilia bundles
• some of the outer hair cell bundles are missing in the middle and apical regions
• 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
• 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)
• 2 mice of 22 mice at E18.5 have truncated posterior semicircular canals
• 2 of 22 mice at E18.5 have truncated ampulla, one posteriorly and one anteriorly
• 2 mice of 22 mice at E18.5 have truncated anterior semicircular canals
• 5 of 22 mice at E18.5 have malformed cochlea
• 4 mice of 22 mice at E18.5 have a truncated endolymphatic duct

nervous system
• 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)
• adult mice exhibit short and disorganized stereocilia bundles
• some of the outer hair cell bundles are missing in the middle and apical regions
• 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)




Genotype
MGI:3054668
ht8
Allelic
Composition
Eya1tm1Rilm/Eya1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• unilateral kidney agenesis was seen in 2 out of 11 mutants

hearing/vestibular/ear
• 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
• 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




Genotype
MGI:3812063
ht9
Allelic
Composition
Eya1bor/Eya1tm1Rilm
Genetic
Background
involves: 129 * C3HeB/FeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1bor mutation (2 available); any Eya1 mutation (4 available)
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• the cochlea of mice are all absent
• one mouse had a total of 37 hair cells in the saccule while another had no visible hair cells
• only one semicircular canal that appears to be the anterior canal is present
• only one semicircular canal that appears to be the anterior canal is present
• all mice have a malformed ampulla in the lateral section
• all mice have an absent ampulla in the anterior and posterior sections
• all mice have severely affected utricle
• in the three of ten E18.5 mice that have a saccule, the saccule is severely malformed
• saccule are absent in 9 of 10 mice at E18.5
• half the mice are missing at least one endolymphatic duct
• half the mice are missing at least one endolymphatic duct

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




Genotype
MGI:5003200
cn10
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Notch1tm2Rko/Notch1tm2Rko
Tg(SFTPC-rtTA)5Jaw/?
Tg(tetO-cre)1Jaw/?
Genetic
Background
involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Notch1tm2Rko mutation (3 available); any Notch1 mutation (32 available)
Tg(SFTPC-rtTA)5Jaw mutation (3 available)
Tg(tetO-cre)1Jaw mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• doxycycline treatment leads to restored epithelial branching
• doxycycline treatment partially, but incompletely, restores lung size




Genotype
MGI:5297338
cx11
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (11 available)
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

cardiovascular system
• 100% of embryos display a single outflow vessel




Genotype
MGI:5297336
cx12
Allelic
Composition
Eya1tm1Rilm/Eya1+
Tbx1tm1Bem/Tbx1+
Genetic
Background
involves: 129 * C57BL/6 * CD-1 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Tbx1tm1Bem mutation (1 available); any Tbx1 mutation (11 available)
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

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




Genotype
MGI:3712507
cx13
Allelic
Composition
Eya1tm1Rilm/Eya1+
Sumo1Gt(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:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Sumo1Gt(RRQ016)Byg mutation (1 available); any Sumo1 mutation (70 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• cleft palate occurs with 36% frequency (4/11 heterozygotes) compared to 8.7% in Sumo1 single heterozygotes

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

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




Genotype
MGI:2682362
cx14
Allelic
Composition
Eya1tm1Rilm/Eya1+
Six1tm1Rsd/Six1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Rsd mutation (0 available); any Six1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• double heterozygotes display renal hypoplasia, not observed in single heterozygotes
• double heterozygotes often display unilateral kidney ablation




Genotype
MGI:2682361
cx15
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Rsd/Six1tm1Rsd
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Rsd mutation (0 available); any Six1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system

muscle
• at E17.5, double homozygotes display a severe reduction of epaxial muscles
• at E17.5, double homozygotes show complete absence of all hypaxial muscles, with no detectable limb muscles

endocrine/exocrine glands
• at E17.5, double homozygotes show a 5-10-fold reduction in pituitary gland volume
• at E17.5, in contrast to either single homozygote, double homozygotes display severe pituitary gland hypoplasia

nervous system
• at E17.5, double homozygotes show a 5-10-fold reduction in pituitary gland volume
• at E17.5, in contrast to either single homozygote, double homozygotes display severe pituitary gland hypoplasia




Genotype
MGI:5297328
cx16
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Mair/Six1tm1Mair
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Mair mutation (0 available); any Six1 mutation (7 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 Six1tm1Mair and Eya1tm1Rilm

cardiovascular system
• 14% of embryos display right sided pulmonary artery (RPA) and right-sided aortic arch (RAA) together
• type B observed in 29% of embryos
• observed in 43% of embryos
• in 29% of embryos
• 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
• observed in 72% of embryos
• observed in 14% of embryos

craniofacial
• embryos display more severe craniofacial defects than single Six1- or Eya1-deficient homozygotes
• muscles of facial expression are hypoplastic
• tongue muscle is hypoplastic

muscle
• embryos have severely hypolplastic branchiomeric muscles
• muscles of facial expression are hypoplastic
• tongue muscle is hypoplastic
• muscles are hypoplastic

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

digestive/alimentary system
• tongue muscle is hypoplastic

vision/eye
• muscles are hypoplastic

growth/size/body
• muscles of facial expression are hypoplastic
• tongue muscle is hypoplastic




Genotype
MGI:5297329
cx17
Allelic
Composition
Eya1tm1Rilm/Eya1tm1Rilm
Six1tm1Mair/Six1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Mair mutation (0 available); any Six1 mutation (7 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 Six1tm1Mair and Eya1tm1Rilm

cardiovascular system
• observed in 44% of embryos
• observed in 56% of embryos
• observed in 11% of embryos
• 100% of compound mutants display outflow tract defects; most show multiple abnormalities
• observed in 33% of embryos




Genotype
MGI:5297330
cx18
Allelic
Composition
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1tm1Mair
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Mair mutation (0 available); any Six1 mutation (7 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 Six1tm1Mair and Eya1tm1Rilm

cardiovascular system
• observed in 20% of embryos
• type B observed in 33%
• 13% of embryos display duplicated left common carotid artery
• 87% of compound mutants display outflow tract defects
• observed in 13% of embryos




Genotype
MGI:3715118
cx19
Allelic
Composition
Eya1tm1Rilm/Eya1+
Pax2tm1Pgr/Pax2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Pax2tm1Pgr mutation (1 available); any Pax2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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
• 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
• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small lateral semicircular canal
• 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
• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display significantly smaller or morphologically unidentifiable ampullae
• at E17.5, 5 of 24 double heterozygous mutant inner ears (3 of 12 embryos) display a small anterior semicircular canal
• at E17.5, 18 of 24 double heterozygous mutant inner ears (10 of 12 embryos) display smaller or malshaped sacculae
• at E17.5, 2 of 24 double heterozygous mutant inner ears (2 of 12 embryos) display a truncated endolymphatic duct/sac




Genotype
MGI:3054670
cx20
Allelic
Composition
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1+
Genetic
Background
involves: 129/Sv * 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Mair mutation (0 available); any Six1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• 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
• bilateral (5/21) kidney agenesis was seen on a 129 background
• unilateral (1/21) kidney agenesis was seen on a 129 background
• the number of ureteric bud branches are decreased at E13.5




Genotype
MGI:3054671
cx21
Allelic
Composition
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1+
Genetic
Background
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Mair mutation (0 available); any Six1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• 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
• unilateral (4/10) kidney agenesis was seen on a C57BL/6 background
• the number of ureteric bud branches is decreased at E13.5




Genotype
MGI:3715225
cx22
Allelic
Composition
Eya1tm1Rilm/Eya1+
Six1tm1Mair/Six1+
Genetic
Background
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Six1tm1Mair mutation (0 available); any Six1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at E17.5, double heterozygotes display an enhanced inner ear phenotype relative to each single heterozygous mutant animal
• at E17.5, 4 of 20 double heterozygous mutant inner ears (4 of 10 embryos) display a malformed cochlea
• 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
• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small lateral semicircular canal
• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a truncated posterior semicircular canal
• 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
• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display a small anterior semicircular canal
• at E17.5, 2 of 20 double heterozygous mutant inner ears (1 of 10 embryos) display smaller or malshaped sacculae
• at E17.5, 3 of 20 double heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac




Genotype
MGI:3715233
cx23
Allelic
Composition
Eya1tm1Rilm/Eya1+
Pax2tm1Pgr/Pax2+
Six1tm1Mair/Six1+
Genetic
Background
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (4 available)
Pax2tm1Pgr mutation (1 available); any Pax2 mutation (16 available)
Six1tm1Mair mutation (0 available); any Six1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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
• 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
• within the semicircular canals, a narrower lumen is observed in some areas
• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small lateral semicircular canal
• 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
• 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
• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small anterior semicircular canal
• at E17.5, 8 of 8 triple heterozygous mutant inner ears (from all 4 embryos) display a small or malformed saccula
• at E17.5, 2 of 8 triple heterozygous mutant inner ears (1 of 4 embryos) display a truncated endolymphatic duct/sac





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/03/2019
MGI 6.14
The Jackson Laboratory