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Phenotypes Associated with This Genotype
Genotype
MGI:3688608
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
• 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 ID Ref(s)
Deafness, X-Linked 2; DFNX2 304400 J:57298 , J:108889


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory