All Phenotypes Pax2<tm1Pgr> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax2^tm1Pgr/Pax2^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ	MGI:2677317
hm2	Pax2^tm1Pgr/Pax2^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3694699
hm3	Pax2^tm1Pgr/Pax2^tm1Pgr	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3714946
ht4	Pax2^tm1Pgr/Pax2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3694692
ht5	Pax2^tm1Pgr/Pax2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3714949
ht6	Pax2^tm1Pgr/Pax2⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:5295935
ht7	Pax2^tm1Pgr/Pax2⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3714953
cx8	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715118
cx9	Pax2^tm1Pgr/Pax2⁺ Ret^tm1Cos/Ret⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:5295884
cx10	Eya1^tm1Rilm/Eya1⁺ Pax2^tm1Pgr/Pax2⁺ Six1^tm1Mair/Six1⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3715233

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

reproductive system

absent seminal vesicle ( J:30343 )

• at E17.5, male homozygotes lack seminal vesicles

abnormal testis morphology ( J:30343 )

absent oviduct ( J:30343 )

• at E17.5, female homozygotes lack oviducts

absent uterine horn ( J:30343 )

• at E17.5, female homozygotes lack uterine horns

absent vagina ( J:30343 )

• at E17.5, female homozygotes lack a vagina

absent efferent ductules of testis ( J:30343 )

• at E17.5, male homozygotes lack efferent ducts of the testis

absent epididymis ( J:30343 )

• at E17.5, male homozygotes lack an epididymis

absent vas deferens ( J:30343 )

• at E17.5, male homozygotes lack a vas deferens

renal/urinary system

abnormal kidney development ( J:30343 )

abnormal mesonephric mesenchyme morphology ( J:30343 )

• mesenchyme of the nephrogenic cord fails to undergo epithelial transformation and is unable to form mesonephric tubules

abnormal metanephric mesenchyme morphology ( J:30343 )

• metanephric induction fails as ureter buds are absent

absent metanephros ( J:30343 )

• metanephric development does not occur

absent kidney ( J:30343 )

• at E17.5, homozygotes invariably lack both kidneys

absent ureter ( J:30343 )

• at E17.5, homozygotes invariably lack both ureters

• both sexes lack the entire genital tracts

absent ureteric bud ( J:30343 )

• homozygotes fail to develop ureteric buds

endocrine/exocrine glands

absent seminal vesicle ( J:30343 )

• at E17.5, male homozygotes lack seminal vesicles

abnormal testis morphology ( J:30343 )

embryo

abnormal intermediate mesoderm morphology ( J:30343 )

• homozygotes exhibit impaired differentiation of intermediate mesoderm-derived structures; as a result, kidneys, ureters, and genital tracts fail to form

• in contrast, endoderm-derived structures, such as the bladder, urethra and prostate gland appear normal

abnormal mesonephros morphology ( J:30343 )

• at E12.5, homozygotes fail to develop mesonephric tubules, indicating impaired epithelial transition into the nephrogenic cord

Mullerian duct degeneration ( J:30343 )

• by E16.5, the parts of Mullerian ducts initially formed have degenerated and are contained within the remnant of urogenital ridges flanking the gonads

rudimentary Mullerian ducts ( J:30343 )

• at E13.5, mutant Mullerian ducts are only present at the uppermost parts of the genital ridge, whereas wild-type ducts are found along the entire length of the genital ridge and have reached the cloaca

Wolffian duct degeneration ( J:30343 )

• by E12.5, the parts of Wolffian ducts initially formed are degenerating (or absent) and contained within the remnant of urogenital ridges flanking the gonads

rudimentary Wolffian ducts ( J:30343 )

• at E10.5, mutant Wolffian ducts fail to reach the cloaca

• at E11.5, mutant Wolffian ducts do not extend beyond somite 25

abnormal neural tube closure ( J:36834 )

incomplete rostral neuropore closure ( J:36834 )

• at E9.0, mutant cephalic folds fail to fuse at the midbrain region

nervous system

abnormal axon extension ( J:36834 )

• homozygotes show abnormal axonal pathways along the optic stalks and ventral diencephalon

abnormal neural tube closure ( J:36834 )

incomplete rostral neuropore closure ( J:36834 )

• at E9.0, mutant cephalic folds fail to fuse at the midbrain region

abnormal brain morphology ( J:36834 )

• homozygotes show gross alteration in midbrain and anterior hindbrain morphology

abnormal optic tract morphology ( J:36834 )

• optic tracts remain totally ipsilateral due to agenesis of the optic chiasma; no contralateral projections are observed

abnormal diencephalon morphology ( J:36834 )

• homozygotes display an abnormal basis of diencephalon, where no optic chiasma is observed

exencephaly ( J:36834 )

• at E11.5, homozygotes display exencephaly from the anterior hindbrain to the posterior forebrain

• the extesion of exencephaly is only slightly variable among individuals and is not genotype-dependent

• when present, exencephaly is of similar severity in homozygous and heterozygous mutant mice

absent cochlear ganglion ( J:36834 )

• at E17, the spiral ganglion is entirely absent

abnormal optic nerve morphology ( J:36834 )

• at E17, the optic nerve is abnormally coated by pigmented cells and glial cells are absent

• the mutant optic nerve consists of a single bundle of axons and is of reduced diameter, probably due to absence of cell bodies bewteen axons

abnormal optic nerve innervation ( J:36834 )

• mutant optic fibers project exclusively to the ipsilateral side without reaching the midline at the optic recess at the base of the diencephalon

• as a result, the insertion of the optic nerve occurs more laterally than in wild-type mice

absent optic chiasm ( J:36834 )

• agenesis of the optic chiasma

absent cochlear nerve ( J:36834 )

• at E13.5, the cochlear root of the vestibulocochlear nerve is absent

vision/eye

abnormal optic nerve morphology ( J:36834 )

• at E17, the optic nerve is abnormally coated by pigmented cells and glial cells are absent

• the mutant optic nerve consists of a single bundle of axons and is of reduced diameter, probably due to absence of cell bodies bewteen axons

abnormal optic nerve innervation ( J:36834 )

• mutant optic fibers project exclusively to the ipsilateral side without reaching the midline at the optic recess at the base of the diencephalon

• as a result, the insertion of the optic nerve occurs more laterally than in wild-type mice

absent optic chiasm ( J:36834 )

• agenesis of the optic chiasma

abnormal retina pigmentation ( J:36834 )

• at E17, pigmentation of the outer retina cells abnormally extends into the optic stalk region and thus surrounds the optic nerve

• Background Sensitivity: the extent of pigmentation into the optic stalk is background-dependent, ranging from 50% to practically all of the stalk extension up to the diencephalon

abnormal eye development ( J:36834 )

abnormal optic fissure closure ( J:36834 )

• at E13, the converging neuroepithelial lips of the prospective retina seem to contact each other, but the basal lamina persists precluding the closure of optic fissure

• despite an open optic fissure, both retinal layers appear normal at birth with respect to cell type composition

abnormal optic stalk morphology ( J:36834 )

• optic stalk cells fail to differentiate into glial cells of the optic nerve

• the pigmented cell phenotype extends into the optic stalk region and surrounds the optic nerve

• Background Sensitivity: the extent of pigmentation into the optic stalk is background-dependent, ranging from 50% to practically all of the stalk extension up to the diencephalon

coloboma ( J:36834 )

• homozygotes fail to close the optic fissure and display complete bilateral coloboma at birth

pigmentation

abnormal retina pigmentation ( J:36834 )

• at E17, pigmentation of the outer retina cells abnormally extends into the optic stalk region and thus surrounds the optic nerve

• Background Sensitivity: the extent of pigmentation into the optic stalk is background-dependent, ranging from 50% to practically all of the stalk extension up to the diencephalon

hearing/vestibular/ear

absent organ of Corti ( J:36834 )

• at E17, none of the cell types of the organ of Corti are identified

short scala media ( J:36834 )

• at E13.5, the cochlear duct fails to elongate from the ventral portion of the otic vesicle and remains amorphic

absent cochlea ( J:36834 , J:92326 )

• at E17, the cochlea is entirely agenic and remains as a ball-shaped simple epithelium (J:36834)

• in contrast, vestibular and saccular structures develop rather normally (J:36834)

• Background Sensitivity: the cochlear phenotype is more severe on a 129/Sv genetic background (cochlear agenesis) than on a mixed 129/Sv x C57BL/6 background (rudimentary cochlea) (J:92326)

cellular

abnormal axon extension ( J:36834 )

• homozygotes show abnormal axonal pathways along the optic stalks and ventral diencephalon

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:36834

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
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 inner ear morphology ( J:92326 )

• at E15.5, homozygotes exhibit mild to severe inner ear defects

• notably, inner ears are more severely affected in mutants with exencephaly

abnormal cochlea morphology ( J:92326 )

• at E12, the cochlear region is wider than normal and displays a stunted ventral extension

• at E11.5, cochlear outgrowth is arrested due to increased apoptosis of cells in the cochlear anlage; however, apoptosis within the otic epithelia is greatly reduced by E12.5

• a rudimentary cochlea is always present in all mutant inner ears

• Background Sensitivity: the cochlear phenotype is more severe on a 129/Sv genetic background (cochlear agenesis) than on a mixed 129/Sv x C57BL/6 background

abnormal cochlear sensory epithelium morphology ( J:92326 )

abnormal scala media morphology ( J:92326 )

• at E15.5, the cochlear duct is medially displaced in 15 of 17 cases due to the exencephaly

abnormal organ of Corti morphology ( J:92326 )

• at E15.5, only a rudimentary organ of Corti is observed

abnormal stria vascularis morphology ( J:92326 )

• homozygotes exhibit aberrant locations of neural crest-derived melanocytes, suggesting impaired cell fate specification

decreased cochlea coiling ( J:92326 )

• at E15.5, the cochlear duct shows less than a signle turn

abnormal semicircular canal morphology ( J:92326 )

• at E15.5, 15 of 17 homozygotes display misoriented inner ears with laterally displaced ampullae and SCCs as a result of exencephaly

• the diameter of SCCs is sometimes smaller or slightly larger than normal

abnormal common crus morphology ( J:92326 )

• at E15.5, the endolymphatic duct is invariably fused with the common crus

abnormal semicircular canal ampulla morphology ( J:92326 )

• the size of ampullae are sometimes smaller or slightly larger than normal

abnormal vestibular saccular macula morphology ( J:92326 )

• at E15.5, 8 of 12 mutant inner ears show a distinct but smaller macula sacculi

• in contrast, the macula utriculi remains unaffected

absent vestibular saccule ( J:92326 )

• at E15.5, most mutant inner ears lack a well-defined saccule

abnormal endolymphatic duct morphology ( J:92326 )

• at E12, the endolymphatic duct is either shorter and broader or smaller than normal

• at E15.5, the endolymphatic duct is invariably fused with the common crus

small endolymphatic duct ( J:92326 )

short endolymphatic duct ( J:92326 )

nervous system

exencephaly ( J:92326 )

absent cochlear ganglion ( J:92326 )

• at E15.5, most homozygotes lack a spiral ganglion

small vestibular ganglion ( J:92326 )

• at E15.5, 5 of 8 homozygotes display a reduced vestibular ganglion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:92326

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
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, paintfilling indicates that a cochlea-like structure is present but it is severely malformed

abnormal inner ear vestibule morphology ( J:119574 )

• at E17.5, the saccule and utricle are found in a large single chamber without subdivision

• however, all three semicircular canals and ampullae are present

abnormal utricle morphology ( J:119574 )

abnormal vestibular saccule morphology ( J:119574 )

abnormal endolymphatic duct morphology ( J:119574 )

• at E17.5, no normal endolymphatic duct is observed

Allelic Composition	Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

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

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

renal/urinary system

kidney cortex hypoplasia ( J:30343 )

• at E17.0, heterozygotes frequently display a thinner cortical region

abnormal kidney calyx morphology ( J:30343 )

• heterozygous kidneys are frequently hypoplastic due to calyx reduction

small kidney ( J:30343 )

• at E17.5, heterozygotes display a reduced kidney size, ranging form 1/10 of normal size to wild-type size

renal hypoplasia ( J:30343 )

• heterozygotes frequently develop renal hypoplasia, mainly due to reduced calyces and upper part of the ureters, suggesting defects in ureter branching and/or cell proliferation

decreased nephron number ( J:30343 )

• heterozygotes frequently display a reduced number of developing nephrons

nervous system

exencephaly ( J:36834 )

• Background Sensitivity: in heterozygotes, incidence of exencephaly is 11 of 59 cases in a 129/Sv x NMRI mixed background, 1 of 29 in a 129/Sv x C57BL/6 mixed background, 2 of 11 in a 129/Sv x C3H mixed background, and none out of 14 in a 129/Sv inbred background

• heterozygous embryos exhibit exencephaly with a low penetrance and in a background-dependent fashion

optic nerve coloboma ( J:36834 )

• some heterozygotes exhibit optic nerve coloboma

vision/eye

optic nerve coloboma ( J:36834 )

• some heterozygotes exhibit optic nerve coloboma

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:36834 )

N	• exencephalic heterozygotes do NOT display overt abnormalities in inner ear development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:36834

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
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 inner ear morphology ( J:119574 )

• at E17.5, 13 of 24 heterozygous mutant inner ears (7 of 12 embryos) display a slight reduction in their overall volume with thinner ducts

• however, all heterozygotes show normal inner ear gross structures

abnormal cochlea morphology ( J:119574 )

• at E17.5, 6 of 24 heterozygous mutant inner ears (4 of 12 embryos) exhibit slightly shortened cochlea but complete 1.5 turns

decreased cochlea coiling ( J:119574 )

• at E17.5, 16 of 24 heterozygous mutant cochleae (9 of 12 embryos) coil between 1.5 and 1.75 turns, 3 of 24 (2 embryos) coil between 1.25 and 1.5 turns, and 2 of 24 (2 embryos) coil between 1.0 and 1.25 turns; no less than 1.0 turns are observed

Allelic Composition	Pax2^tm1Pgr/Pax2⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

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

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

renal/urinary system

decreased renal glomerulus number ( J:117753 )

• at P15, heterozygotes display a reduced mean glomerular density (5.79 glomeruli per unit area) relative to wild-type (8.95 glomeruli per unit area) and single Ret^tm1Cos heterozygous (7.25 glomeruli per unit area) in littermates

renal hypoplasia ( J:117753 )

• at P15, heterozygotes show a significantly reduced kidney to body mass ratio (0.56%) relative to wild-type (0.75%) and single Ret^tm1Cos heterozygous (0.75%) littermates

• at E18.5, heterozygotes show a significantly reduced kidney to body mass ratio (0.26%) relative to wild-type (0.42%) and single Ret^tm1Cos heterozygous (0.45%) littermates

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
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 inner ear morphology ( J:119574 )

• at E17.5, 11 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display a slight reduction in their overall volume relative to control mice

• however, all double heterozygotes show normal inner ear gross structures

abnormal cochlea morphology ( J:119574 )

• at E17.5, 10 of 20 double heterozygous mutant inner ears (6 of 10 embryos) display a slightly shortened cochlea but reach 1.5 turns

decreased cochlea coiling ( J:119574 )

• at E17.5, only 1 of 20 heterozygous mutant cochleas (1 of 10 embryos) coils between 1 and 1.25 turns whereas 10 of 20 cochleas (6 of 10 embryos) coil between 1.5 and 1.75 turns

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	Pax2^tm1Pgr/Pax2⁺ Ret^tm1Cos/Ret⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax2^tm1Pgr mutation (1 available); any Pax2 mutation (44 available)
Ret^tm1Cos mutation (2 available); any Ret mutation (53 available)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:117753 )

• double heterozygotes are significantly underrepresented at weaning, probably due to postnatal renal insufficiency in a subset of newborns

renal/urinary system

decreased renal glomerulus number ( J:117753 )

• at P15, double heterozygotes show a significant reduction of ~49%, 37% and 22% in mean glomerular density (4.57 glomeruli per unit area) relative to wild-type (8.95 glomeruli per unit area), single Ret^tm1Cos heterozygotes (7.25 glomeruli per unit area) and single Pax2^tm1Pgr heterozygotes (5.79 glomeruli per unit area), respectively

renal hypoplasia ( J:117753 )

• at P15, double heterozygotes show a significantly reduced kidney to body mass ratio (0.56%) relative to wild-type (0.75%) or single Ret^tm1Cos heterozygous (0.75%) littermates

• at E18.5, double heterozygotes show a significantly reduced kidney to body mass ratio (0.23%) relative to wild-type (0.42%) or single Ret^tm1Cos heterozygous (0.45%) littermates

absent kidney ( J:117753 )

• at E18.5, about 13% of double heterozygotes display bilateral renal agenesis

single kidney ( J:117753 )

• at E18.5, about 52% of double heterozygotes display unilateral renal agenesis

• at P15, about 15% of double heterozygotes exhibit unilateral renal agenesis, suggesting postnatal death most likely due to renal hypoplasia and insufficiency

absent ureter ( J:117753 )

• at E18.5, the ipsilateral ureters of agenic kidney(s) are also absent

• however, the adrenal glands, bladder and genitals are still present in all instances of renal agenesis

impaired branching involved in ureteric bud morphogenesis ( J:117753 )

• in culture, both E11.5 and E12.5 kidney explants show a stunted pattern of branching morphogenesis with a significantly lower number of branch points relative to wild-type and single Ret^tm1Cos heterozygous explants

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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