Mouse Genome Informatics
ot
    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