Mouse Genome Informatics
hm1
    Pou3f4tm1Tno/Pou3f4tm1Tno
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 >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)
• 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)
• 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 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 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
N
• 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)
• 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)
• at >1 year, female homozygotes exhibit ballooning of type II fibrocytes in the suprastrial zone (J:108889)

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


Mouse Genome Informatics
ht2
    Pou3f4tm1Tno/Pou3f4+
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hearing/vestibular/ear
• 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 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)

skeleton
• 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 IDRef(s)
Deafness, X-Linked 2; DFNX2 304400 J:108889


Mouse Genome Informatics
ot3
    Pou3f4tm1Tno/Y
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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)
• 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)
• 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)
• 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)

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 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 IDRef(s)
Deafness, X-Linked 2; DFNX2 304400 J:57298