All Phenotypes Pou4f3<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pou4f3⁺
wild type
MGI:1857426

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pou4f3^{tm1.1(HBEGF)Jsto}/Pou4f3⁺	either: (involves: 129S4/SvJaeSor * C57BL/6) or (involves: 129S4/SvJaeSor * CBA/J)	MGI:5467595
ht2	Pou4f3^tm1Rsd/Pou4f3⁺	involves: 129S4/SvJae * C57BL/6	MGI:3688923
ht3	Pou4f3^{tm1.1(HBEGF)Rubel}/Pou4f3⁺	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5902980
ht4	Pou4f3^tm1Wagq/Pou4f3⁺	involves: 129S6/SvEvTac * C57BL/6J	MGI:8220064
ht5	Pou4f3^tm1Wagq/Pou4f3⁺	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:8220069
ht6	Pou4f3^{em1(cre/ERT2)Yss}/Pou4f3⁺	involves: C57BL/6J	MGI:8220077
ht7	Pou4f3^{em1(cre/ERT2)Yss}/Pou4f3⁺	involves: C57BL/6J * FVB/NJ	MGI:8220079
cn8	Pou4f3^{em1(cre/ERT2)Yss}/Pou4f3⁺ Tmem63b^em2Yss/Tmem63b^em2Yss	involves: C57BL/6N	MGI:6693368

Allelic Composition	Pou4f3^{tm1.1(HBEGF)Jsto}/Pou4f3⁺
Genetic Background	either: (involves: 129S4/SvJaeSor * C57BL/6) or (involves: 129S4/SvJaeSor * CBA/J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^{tm1.1(HBEGF)Jsto} mutation (1 available); any Pou4f3 mutation (26 available)

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

mortality/aging

premature death ( J:191218 )

• some diphtheria toxin-treated mice must be euthanized due to sustained vestibulomotor problems and weight loss

hearing/vestibular/ear

abnormal vestibular hair cell morphology ( J:191218 )

• fragmented 7 days after diphtheria toxin treatment

• replacement hair cells in diphtheria toxin-treated mice have short stereociliary bundles, multipolar shapes and innervation characteristic of type II hair cells

decreased vestibular hair cell number ( J:191218 )

• in diphtheria toxin-treated mice

• a higher doses does not increase hair cell loss

• however, mice exhibit some hair cell replacement in the lateral extrastriolar region of the utricle with neural elements

abnormal vestibular hair cell stereociliary bundle morphology ( J:191218 )

• disorganized 7 days after diphtheria toxin treatment

• after 14 days of diphtheria toxin treatment, remaining hair cells exhibit either a long bundle of stereocilia, a very short bundle or no bundle concentrated in the presumed lateral extrastriolar region

• replacement hair cells in diphtheria toxin-treated mice have short stereociliary bundles, multipolar shapes and innervation characteristic of type II hair cells

abnormal utricle morphology ( J:191218 )

• expansion of supporting cells 7 days after diphtheria toxin treatment with occupation of most of the sensory epithelium after 14 days of diphtheria toxin treatment

• supporting cell densities decline as hair cells are replaced in diphtheria toxin-treated mice

• supporting cells are converted directly into hair cells in diphtheria toxin-treated mice and are not being rapidly replaced by supporting cell division following diphtheria toxin-mediated hair cell damage

abnormal vestibular system physiology ( J:191218 )

• at 3 and 7 days post-diphtheria toxin treatment, mice exhibit vestibulomotor dysfunction that persists as late as 180 days post treatment

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:191218 )

• at 3 and 7 days post-diphtheria toxin treatment, mice exhibit vestibulomotor dysfunction that persists as late as 180 days post treatment

head bobbing ( J:191218 )

• at 3 and 7 days post-diphtheria toxin treatment

• however, symptoms are improved by assistance of fluid injections and high calorie food supplementation

abnormal gait ( J:191218 )

• staggering gait at 3 and 7 days post-diphtheria toxin treatment

• however, symptoms are improved by assistance of fluid injections and high calorie food supplementation

circling ( J:191218 )

• at 3 and 7 days post-diphtheria toxin treatment

• however, symptoms are improved by assistance of fluid injections and high calorie food supplementation

growth/size/body

weight loss ( J:191218 )

• at 3 and 7 days post-diphtheria toxin treatment

• however, symptoms are improved by assistance of fluid injections and high calorie food supplementation

nervous system

abnormal vestibular hair cell morphology ( J:191218 )

• fragmented 7 days after diphtheria toxin treatment

• replacement hair cells in diphtheria toxin-treated mice have short stereociliary bundles, multipolar shapes and innervation characteristic of type II hair cells

decreased vestibular hair cell number ( J:191218 )

• in diphtheria toxin-treated mice

• a higher doses does not increase hair cell loss

• however, mice exhibit some hair cell replacement in the lateral extrastriolar region of the utricle with neural elements

abnormal vestibular hair cell stereociliary bundle morphology ( J:191218 )

• disorganized 7 days after diphtheria toxin treatment

• replacement hair cells in diphtheria toxin-treated mice have short stereociliary bundles, multipolar shapes and innervation characteristic of type II hair cells

Allelic Composition	Pou4f3^tm1Rsd/Pou4f3⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^tm1Rsd mutation (0 available); any Pou4f3 mutation (26 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:57149 )

• at 2, 18 and 24 months of age, heterozygotes exhibit a comparable hearing to wild-type mice, with similar patterns of cochlear degeneration

• both heterozygous and wild-type mice display a ~30 dB hearing loss beginning at 18 months of age, outer hair cell degeneration and loss of spiral ganglion neurons in the basal turn

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	autosomal dominant nonsyndromic deafness 15	DOID:0110546	OMIM:602459	J:57149

Allelic Composition	Pou4f3^{tm1.1(HBEGF)Rubel}/Pou4f3⁺
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^{tm1.1(HBEGF)Rubel} mutation (0 available); any Pou4f3 mutation (26 available)

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

hearing/vestibular/ear

absent cochlear inner hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

absent cochlear outer hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

conductive hearing loss ( J:240454 )

• owing to loss of virtually all cochlear hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

deafness ( J:240454 )

• after injection with Diphtheria Toxin (DT)

• 3 days after injection (dpi) in P30-35 mice, only 16 kHz signals greater than 60 dB SPL evoked an ABR

• 5 dpi in P30-35 mice, no ABR at any frequency at up to 90 dB SPL

• impairment persists till at least 3 months

mixed hearing loss ( J:240454 )

• in mice injected as neonates, neurons die as a consequence of hair cell loss

sensorineural hearing loss ( J:240454 )

• a significant loss of spiral ganglion neurons (SGNs) in the ventral cochlear nucleus (VCN) from 6 days after injection (dpi) and persisting up to 70 dpi in mice injected at P2 or P5

• at 70 dpi in mice injected at P2, the axons terminating in the inner hair cell region were much less dense and the number of axons crossing the organ of Corti was reduced by 90%

• significant reduction in cross-sectional area in VCN neurons at 21 dpi for neonatal injected mice and at 71 dpi in mature injected mice

nervous system

absent cochlear inner hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

absent cochlear outer hair cells ( J:240454 )

• loss of virtually all hair cells by 6 days after injection (dpi) in mature (P21-P28) mice and 8 dpi in neonate (P5) mice

abnormal cochlear ganglion morphology ( J:240454 )

• at 70 dpi in mice injected at P2, the axons terminating in the inner hair cell region were much less dense and the number of axons crossing the organ of Corti was reduced by 90%

cochlear ganglion degeneration ( J:240454 )

• a significant loss of spiral ganglion neurons (SGNs) in the ventral cochlear nucleus (VCN) from 6 days after injection (dpi) and persisting up to 70 dpi in mice injected at P2 or P5

• no significant loss of SGNs in the VCN at 21 or 70 dpi in mice injected at P21

small cochlear ganglion ( J:240454 )

• significant reduction in cross-sectional area in VCN neuron cell bodies at 21 dpi for neonatal injected mice and at 71 dpi in mature injected mice

Allelic Composition	Pou4f3^tm1Wagq/Pou4f3⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^tm1Wagq mutation (0 available); any Pou4f3 mutation (26 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:296699 )

N	• rotarod tests indicate vestibular function is intact

abnormal cochlear inner hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

fused inner hair cell stereocilia ( J:296699 )

• at 6 months of age stereociliary bundles are fused and elongated at both turns

abnormal cochlear outer hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

decreased cochlear outer hair cell number ( J:296699 )

• some outer hair cells are missing at the 32 kHz region

• many OHCs are lost in the middle-basal turn and replaced with filled flat epithelium in mice at 6 months of age

decreased outer hair cell stereocilia number ( J:296699 )

• remaining OHCs appear to have fewer steriocilia bundles at 6 months of age

cochlear outer hair cell degeneration ( J:296699 )

• selective degeneration of outer but not inner hair cells at the 32 kHz region at 4-6 months of age

abnormal utricle morphology ( J:296699 )

• utricular sensory epithelia appears smaller compared to wild-type controls

decreased auditory brainstem response wave amplitude ( J:296699 )

• reduced peak 1 amplitudes at 32 kHz at 2 months of age

• at 3 and 7 months of age P1 amplitudes are significantly and progressively altered from high to low cochlear frequencies

increased or absent threshold for auditory brainstem response ( J:296699 )

• at 3 and 7 months of age ABR thresholds are significantly and progressively altered from high to low cochlear frequencies

increased or absent distortion product otoacoustic emission threshold ( J:296699 )

• at 3 and 7 months of age DPOAE thresholds are significantly and progressively altered from high to low cochlear frequencies

impaired hearing ( J:296699 )

• adult onset, progressive hearing loss starting with high frequencies

• Background Sensitivity: hearing loss is earlier compared to mice crossed onto an FVB/N background

• treatment with 4-diethylaminobenzaldehyde (an aldehyde dehydrogenase inhibitor) protected hearing function during the treatment period

cellular

abnormal mitochondrial morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization in cochlear inner and outer hair cells

nervous system

abnormal cochlear inner hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

fused inner hair cell stereocilia ( J:296699 )

• at 6 months of age stereociliary bundles are fused and elongated at both turns

abnormal cochlear outer hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

decreased cochlear outer hair cell number ( J:296699 )

• some outer hair cells are missing at the 32 kHz region

• many OHCs are lost in the middle-basal turn and replaced with filled flat epithelium in mice at 6 months of age

decreased outer hair cell stereocilia number ( J:296699 )

• remaining OHCs appear to have fewer steriocilia bundles at 6 months of age

cochlear outer hair cell degeneration ( J:296699 )

• selective degeneration of outer but not inner hair cells at the 32 kHz region at 4-6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 15		DOID:0110546	OMIM:602459	J:296699

Allelic Composition	Pou4f3^tm1Wagq/Pou4f3⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^tm1Wagq mutation (0 available); any Pou4f3 mutation (26 available)

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

hearing/vestibular/ear

decreased cochlear outer hair cell number ( J:296699 )

• significant loss of OHCs at 32 kHz at 12 months of age

decreased auditory brainstem response wave amplitude ( J:296699 )

• decrease in P1 amplitudes at most frequencies

increased or absent threshold for auditory brainstem response ( J:296699 )

• increased thresholds at high frequencies at 12 months of age

increased or absent distortion product otoacoustic emission threshold ( J:296699 )

• increased thresholds at high frequencies at 12 months of age

increased susceptibility to noise-induced hearing loss ( J:296699 )

• at 4 months of age exposure to acoustic trauma induced more severe hearing loss compared to similarly treated wild-type mice

impaired hearing ( J:296699 )

• at 12 months of age

• Background Sensitivity: hearing loss is later compared to mice on a mixed 129S6/SvEvTac and C57BL/6J background

nervous system

decreased cochlear outer hair cell number ( J:296699 )

• significant loss of OHCs at 32 kHz at 12 months of age

Allelic Composition	Pou4f3^{em1(cre/ERT2)Yss}/Pou4f3⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^{em1(cre/ERT2)Yss} mutation (0 available); any Pou4f3 mutation (26 available)

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

hearing/vestibular/ear

cochlear outer hair cell degeneration ( J:296699 )

• significantly degenerated at 32 kHz at 3 months of age

decreased auditory brainstem response wave amplitude ( J:296699 )

• reduced peak 1 amplitudes at across all frequencies at 3 months of age

increased or absent threshold for auditory brainstem response ( J:296699 )

• increased at 32 kHz at 3 months of age

increased or absent distortion product otoacoustic emission threshold ( J:296699 )

• increased at 32 kHz at 3 months of age

nervous system

cochlear outer hair cell degeneration ( J:296699 )

• significantly degenerated at 32 kHz at 3 months of age

Allelic Composition	Pou4f3^{em1(cre/ERT2)Yss}/Pou4f3⁺
Genetic Background	involves: C57BL/6J * FVB/NJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^{em1(cre/ERT2)Yss} mutation (0 available); any Pou4f3 mutation (26 available)

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

hearing/vestibular/ear

cochlear outer hair cell degeneration ( J:296699 )

• significantly loss at multiple frequencies at 9 months of age

abnormal auditory brainstem response waveform shape ( J:296699 )

• at 9 months of age

increased or absent threshold for auditory brainstem response ( J:296699 )

• at 9 months of age

increased or absent distortion product otoacoustic emission threshold ( J:296699 )

• at 9 months of age

impaired hearing ( J:296699 )

• at 9 months of age

nervous system

cochlear outer hair cell degeneration ( J:296699 )

• significantly loss at multiple frequencies at 9 months of age

Allelic Composition	Pou4f3^{em1(cre/ERT2)Yss}/Pou4f3⁺ Tmem63b^em2Yss/Tmem63b^em2Yss
Genetic Background	involves: C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou4f3^{em1(cre/ERT2)Yss} mutation (0 available); any Pou4f3 mutation (26 available)
Tmem63b^em2Yss mutation (0 available); any Tmem63b mutation (49 available)

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

hearing/vestibular/ear

cochlear outer hair cell degeneration ( J:303483 )

• in tamoxifen-treated mice

increased or absent threshold for auditory brainstem response ( J:303483 )

• auditory brainstem response thresholds are elevated in tamoxifen-treated mice

abnormal distortion product otoacoustic emission ( J:303483 )

• distortion product otoacoustic emission thresholds are elevated in tamoxifen-treated mice

impaired hearing ( J:303483 )

• tamoxifen-treated mice exhibit hearing loss

nervous system

cochlear outer hair cell degeneration ( J:303483 )

• in tamoxifen-treated mice

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