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Phenotypes Associated with This Genotype
Genotype
MGI:3688625
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


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
02/02/2016
MGI 6.02
The Jackson Laboratory