Mouse Genome Informatics
hm1
    Pou3f4tm1Tno/Pou3f4tm1Tno
involves: 129S4/SvJae * C57BL/6
Key:
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
• however, no pathological changes in the inner and outer hair cells, stria vascularis, spiral ganglia or auditory nerve are observed
• at >1 year, female homozygotes display detachment of the Reissner's membrane
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin
• 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
• 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

skeleton
• at 11 weeks, female homozygotes show pathological changes in the spiral ligament fibrocytes in all turns of the cochlea
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin
• 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
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at >1 year, all female heterozygotes with profound hearing loss show detachment of the Reissner's membrane
• at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone
• 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
• 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
• at >1 year, all female heterozygotes with profound hearing loss show ballooning of type II fibrocytes in the suprastrial zone

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
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
• 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
• type I fibrocytes filling the area beneath the stria vascularis have few mitochondria while the surrounding extracellular matrix is extremely thin
• 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
• at 11 weeks, male hemizygotes exhibit an average EP value of only 38 mV vs 85 mV observed in wild-type males
• at 11 weeks, male hemizygotes exhibit an average ABR threshold of 89-dB SPL vs 23-dB SPL observed in wild-type males
• male hemizygotes show loss of wave I at 30- to 70-dB SPL and profound deafness

behavior/neurological
N
• male hemizygotes can swim normally, indicating normal vestibular function

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

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