Mouse Genome Informatics
ht
    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