Phenotypes associated with this allele

• Allele Symbol: Pou3f4^tm1Tno
• Allele Name: targeted mutation 1, T Noda
• Allele ID: MGI:1857991
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pou3f4^tm1Tno/Pou3f4^tm1Tno	involves: 129S4/SvJae * C57BL/6	MGI:3688608
ht2	Pou3f4^tm1Tno/Pou3f4^+	involves: 129S4/SvJae * C57BL/6	MGI:3688625
ot3	Pou3f4^tm1Tno/Y	involves: 129S4/SvJae * C57BL/6	MGI:3046468

Genotype
MGI:3688608

hm1

• Allelic Composition: Pou3f4^tm1Tno/Pou3f4^tm1Tno
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

hearing/vestibular/ear

abnormal cochlea morphology ( J:57298 )

♀ • at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea

♀ • however, no pathological changes in the inner and outer hair cells, stria vascularis, spiral ganglia or auditory nerve are observed

detached Reissner membrane ( J:108889 )

♀ • at >1 year, female homozygotes display detachment of the Reissner's membrane

abnormal spiral ligament fibrocyte morphology ( J:57298 )

♀ • at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea

abnormal type I spiral ligament fibrocytes ( J:57298 )

♀ • type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin

abnormal type II spiral ligament fibrocytes ( J:57298 , J:108889 )

♀ • type II fibrocytes in the suprastrial zone have markedly fewer cytoplasmic extensions and both the volume of cytoplasm and the number of mitochondria are significantly reduced (J:57298)

♀ • at >1 year, female homozygotes exhibit ballooning of type II fibrocytes in the suprastrial zone (J:108889)

decreased endocochlear potential ( J:57298 )

♀ • at 11 weeks, female homozygotes exhibit an average EP value of only 39 mV vs 91 mV observed in wild-type females

increased or absent threshold for auditory brainstem response ( J:57298 , J:108889 )

♀ • at 11 weeks, female homozygotes exhibit an average ABR threshold of 92-dB SPL vs 25-dB SPL observed in wild-type females (J:57298)

♀ • at 1 year, aged female homozygotes exhibit an average ABR threshold of 1008.7 dB SPL, whereas aged wild-type females show only a slight increase in ABR thresholds with an average value of 53.910.8 dB SPL (J:108889)

deafness ( J:57298 , J:108889 )

♀ • at 11 weeks, female homozygotes show loss of wave I at 30- to 70-dB SPL, indicating profound deafness (J:57298)

♀ • at 1 year, aged female homozygotes show profound deafness with an average ABR threshold of 1008.7 dB SPL (J:108889)

behavior/neurological

behavior/neurological phenotype ( J:57298 )

♀N • female homozygotes can swim normally, indicating normal vestibular function

skeleton

abnormal spiral ligament fibrocyte morphology ( J:57298 )

♀ • at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea

abnormal type I spiral ligament fibrocytes ( J:57298 )

♀ • type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin

abnormal type II spiral ligament fibrocytes ( J:57298 , J:108889 )

♀ • type II fibrocytes in the suprastrial zone have markedly fewer cytoplasmic extensions and both the volume of cytoplasm and the number of mitochondria are significantly reduced (J:57298)

♀ • at >1 year, female homozygotes exhibit ballooning of type II fibrocytes in the suprastrial zone (J:108889)

Genotype
MGI:3688625

ht2

• Allelic Composition: Pou3f4^tm1Tno/Pou3f4⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

hearing/vestibular/ear

abnormal cochlea morphology ( J:108889 )

♀

detached Reissner membrane ( J:108889 )

♀ • at >1 year, all female heterozygotes with profound hearing loss show detachment of the Reissner's membrane

abnormal type II spiral ligament fibrocytes ( J:108889 )

♀ • at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone

increased or absent threshold for auditory brainstem response ( J:108889 )

♀ • at 11-15 weeks, young female heterozygotes display a normal range of ABR thresholds of 24.1 +/- 3.5 dB SPL, similar to those of wild-type females

♀ • however, at >1 year, about one-third of female heterozygotes exhibit an average ABR threshold of 96.3 +/- 6.5; the remainder display ABR thresholds within the normal range

deafness ( J:108889 )

♀ • at >1 year, about one-third of aged female heterozygotes exhibit late-onset profound deafness

♀ • the remainder show only a moderate hearing loss falling within the range of hearing loss noted in age-matched wild-type females

skeleton

abnormal type II spiral ligament fibrocytes ( J:108889 )

♀ • at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone

Genotype
MGI:3046468

ot3

• Allelic Composition: Pou3f4^tm1Tno/Y
• Genetic Background: involves: 129S4/SvJae * C57BL/6

hearing/vestibular/ear

abnormal cochlea morphology ( J:57298 )

♂ • at 11 weeks, male hemizygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea

♂ • in contrast, middle-ear structures, flexibility of auditory ossicle junctions, and mobility of stapes footplates appear unaffected

♂ • no pathological features in the inner and outer hair cells, stria vascularis, spiral ganglia or auditory nerve are observed

abnormal type I spiral ligament fibrocytes ( J:57298 )

♂ • type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin

abnormal type II spiral ligament fibrocytes ( J:57298 )

♂ • type II fibrocytes in the suprastrial zone have markedly fewer cytoplasmic extensions and both the volume of cytoplasm and the number of mitochondria are significantly reduced

decreased endocochlear potential ( J:57298 )

♂ • at 11 weeks, male hemizygotes exhibit an average EP value of only 38 mV vs 85 mV observed in wild-type males

increased or absent threshold for auditory brainstem response ( J:57298 )

♂ • at 11 weeks, male hemizygotes exhibit an average ABR threshold of 89-dB SPL vs 23-dB SPL observed in wild-type males

deafness ( J:57298 )

♂ • male hemizygotes show loss of wave I at 30- to 70-dB SPL and profound deafness

behavior/neurological

behavior/neurological phenotype ( J:57298 )

♂N • male hemizygotes can swim normally, indicating normal vestibular function

skeleton

abnormal type I spiral ligament fibrocytes ( J:57298 )

♂ • type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin

abnormal type II spiral ligament fibrocytes ( J:57298 )

♂ • type II fibrocytes in the suprastrial zone have markedly fewer cytoplasmic extensions and both the volume of cytoplasm and the number of mitochondria are significantly reduced