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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pou3f4tm1Tno
targeted mutation 1, T Noda
MGI:1857991
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pou3f4tm1Tno/Pou3f4tm1Tno involves: 129S4/SvJae * C57BL/6 MGI:3688608
ht2
Pou3f4tm1Tno/Pou3f4+ involves: 129S4/SvJae * C57BL/6 MGI:3688625
ot3
Pou3f4tm1Tno/Y involves: 129S4/SvJae * C57BL/6 MGI:3046468


Genotype
MGI:3688608
hm1
Allelic
Composition
Pou3f4tm1Tno/Pou3f4tm1Tno
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou3f4tm1Tno mutation (0 available); any Pou3f4 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• however, no pathological changes in the inner and outer hair cells, stria vascularis, spiral ganglia or auditory nerve are observed (J:57298)
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• however, no pathological changes in the inner and outer hair cells, stria vascularis, spiral ganglia or auditory nerve are observed (J:57298)
• at >1 year, female homozygotes display detachment of the Reissner's membrane (J:108889)
• at >1 year, female homozygotes display detachment of the Reissner's membrane (J:108889)
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (J:57298)
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (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 (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 (J:57298)
• at >1 year, female homozygotes exhibit ballooning of type II fibrocytes in the suprastrial zone (J:108889)
• at >1 year, female homozygotes exhibit ballooning of type II fibrocytes in the suprastrial zone (J:108889)
• at 11 weeks, female homozygotes exhibit an average EP value of only 39 mV vs 91 mV observed in wild-type females (J:57298)
• at 11 weeks, female homozygotes exhibit an average EP value of only 39 mV vs 91 mV observed in wild-type females (J:57298)
• 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 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)
• 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)
• at 11 weeks, female homozygotes show loss of wave I at 30- to 70-dB SPL, indicating profound deafness (J:57298)
• 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)
• at 1 year, aged female homozygotes show profound deafness with an average ABR threshold of 1008.7 dB SPL (J:108889)

behavior/neurological
N
• female homozygotes can swim normally, indicating normal vestibular function (J:57298)
• female homozygotes can swim normally, indicating normal vestibular function (J:57298)

skeleton
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (J:57298)
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (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 (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 (J:57298)
• at >1 year, female homozygotes exhibit ballooning of type II fibrocytes in the suprastrial zone (J:108889)
• at >1 year, female homozygotes exhibit ballooning of type II fibrocytes in the suprastrial zone (J:108889)

Mouse Models of Human Disease
OMIM ID Ref(s)
Deafness, X-Linked 2; DFNX2 304400 J:57298 , J:108889




Genotype
MGI:3688625
ht2
Allelic
Composition
Pou3f4tm1Tno/Pou3f4+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou3f4tm1Tno mutation (0 available); any Pou3f4 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
(J:108889)
(J:108889)
• at >1 year, all female heterozygotes with profound hearing loss show detachment of the Reissner's membrane (J:108889)
• at >1 year, all female heterozygotes with profound hearing loss show detachment of the Reissner's membrane (J:108889)
• at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone (J:108889)
• at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone (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 (J:108889)
• 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 (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 (J:108889)
• 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 (J:108889)
• at >1 year, about one-third of aged female heterozygotes exhibit late-onset profound deafness (J:108889)
• the remainder show only a moderate hearing loss falling within the range of hearing loss noted in age-matched wild-type females (J:108889)
• at >1 year, about one-third of aged female heterozygotes exhibit late-onset profound deafness (J:108889)
• the remainder show only a moderate hearing loss falling within the range of hearing loss noted in age-matched wild-type females (J:108889)

skeleton
• at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone (J:108889)
• at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone (J:108889)

Mouse Models of Human Disease
OMIM ID Ref(s)
Deafness, X-Linked 2; DFNX2 304400 J:108889




Genotype
MGI:3046468
ot3
Allelic
Composition
Pou3f4tm1Tno/Y
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pou3f4tm1Tno mutation (0 available); any Pou3f4 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at 11 weeks, male hemizygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• in contrast, middle-ear structures, flexibility of auditory ossicle junctions, and mobility of stapes footplates appear unaffected (J:57298)
• no pathological features in the inner and outer hair cells, stria vascularis, spiral ganglia or auditory nerve are observed (J:57298)
• at 11 weeks, male hemizygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea (J:57298)
• in contrast, middle-ear structures, flexibility of auditory ossicle junctions, and mobility of stapes footplates appear unaffected (J:57298)
• no pathological features in the inner and outer hair cells, stria vascularis, spiral ganglia or auditory nerve are observed (J:57298)
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (J:57298)
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (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 (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 (J:57298)
• at 11 weeks, male hemizygotes exhibit an average EP value of only 38 mV vs 85 mV observed in wild-type males (J:57298)
• at 11 weeks, male hemizygotes exhibit an average EP value of only 38 mV vs 85 mV observed in wild-type males (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 (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 (J:57298)
• male hemizygotes show loss of wave I at 30- to 70-dB SPL and profound deafness (J:57298)
• male hemizygotes show loss of wave I at 30- to 70-dB SPL and profound deafness (J:57298)

behavior/neurological
N
• male hemizygotes can swim normally, indicating normal vestibular function (J:57298)
• male hemizygotes can swim normally, indicating normal vestibular function (J:57298)

skeleton
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (J:57298)
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin (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 (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 (J:57298)

Mouse Models of Human Disease
OMIM ID Ref(s)
Deafness, X-Linked 2; DFNX2 304400 J:57298





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory