All Phenotypes Pou4f3<+> MGI Mouse

Phenotypes associated with this allele

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
cn4	Pou4f3^{em1(cre/ERT2)Yss}/Pou4f3⁺ Tmem63b^em2Yss/Tmem63b^em2Yss	involves: C57BL/6N	MGI:6693368

♀	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^{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 (46 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

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)
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