Mouse Genome Informatics
ot
    Pou3f4tm1Cren/Y
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• the mean sound pressure level (SPL) that elicited the threshold level of a Preyer's reflex in wild-type mice was 62 3.1 dB; in contrast, mutants elicited a reflex threshold at 71 3.6 dB SPL (J:56294)
(J:56294)
• most mutants displayed vertical head bobbing; the degree of head bobbing was variable (J:56294)

hearing/vestibular/ear
• the mutant stapes were generally thinner than wild-type (J:56294)
• significant variation in stapes morphology among individual mutant mice (J:94058)
• in some cases, the crura of the stapes appeared thinner at their junction with the footplate; in others, the junction adopted a fibrous appearance (J:94058)
• the wild-type stapes footplate had a convex surface, whereas the surface of the mutant footplate appeared flattened (J:56294)
• the sole of wild-type stapes footplate displayed a rounded, slightly eccentric, ovoid morphology; in contrast, the mutant footplate had a polygonal morphology, with a distinct narrowing on one end (J:56294)
• the mutant footplate appeared more plantar than oval in shape and footplate thickness was reduced (J:94058)
• size reduction of both the thickness of the bony labyrinth and the perilymphatic space encompassing the SSCC (J:56294)
• cochlear hypoplasia was most prominent in the basal turn (J:56294)
• in contrast, the incus and malleus ossicular bones appeared normal and the organ of Corti showed no differences in the number or morphology of sensory hair cells (J:56294)
• Reissner's membrane often appeared to be less tightly adherent to the fibrocytes (J:56294)
• all mutants appeared to exhibit distension of Reissner's membrane (J:56294)
• the fibrocytes of the spiral ligament appeared thinner and less adherent to one another (J:56294)
• the scala tympani adopted a flattened elliptical shape (J:56294)
• the scala tympani showed an apparent reduction in volume (J:56294)
• the spiral limbus was reduced in size (J:56294)
• adult cochleae exhibited several dysplastic features, including a reduction in the coiling, or number of turns (J:56294)
• ~60% of mutant cochleae showed a reduction in the number of turns to one and one-half turns (J:56294)
• ~1/4th of mutant cochleae showed even fewer turns, with the least amount of coiling being a three-fourth turn (J:56294)
• only 1/10th of the mutant cochleae showed the normal one and three-fourth turns (J:56294)
• the amount of coiling differed between the left and right cochlea of the same mutant animal (J:56294)
• in some mutants, the lateral SCC exhibited either a constriction or dysplasia (J:56294)
• no malformations were observed in the posterior SCCs (J:56294)
• size reduction of both the thickness of the bony labyrinth and the perilymphatic space encompassing the SSCC (J:56294)
• the orientation of SSCC within the cranium was almost parallel with the major body axis (J:56294)
• a trend of decreasing SSCC diameter from P0 through P14, with significant dysmorphic constriction of the superior arc at P14; not observed in the posterior SCC and only rarely noted in the lateral SCC (J:112541)
• hypercellularity and persistence of immature woven bone surrounding the perilymphatic space, associated with deficient lamellar bone formation and aberrant mesenchymal differentiation in SSCC (J:112541)
• enlargement of the internal auditory meatus (J:56294)
• all mutants appeared to have inner ear hydrops (J:56294)
• the oval window of the temporal bone varied in the size and shape of its opening (J:94058)
• young adults (6-10 weeks of age) exhibited a significantly reduced EP response relative to wild-type mice (J:94058)
• ABR thresholds are elevated by >60 dB at frequencies between 10.0 and 20.0 kHz (J:94058)
• at 6-10 weeks, impaired middle-ear sound conduction in the presence of an intact tectorial membrane (TM), as shown by significantly reduced umbo velocity in the mid-range frequencies (maximum of 13 dB at 11.1 kHz), with high variability among individual mutant mice (J:94058)
• following perforation of the TM in the pars flaccida region, additional reduction of incus velocity in the mid-range frequencies, although milder than that observed at the umbo, with high variability among individuals (J:94058)
• the conductive component of hearing loss is small compared to the additional 47+ dB of sensorineural hearing loss arising from the deterioration in EP (J:94058)
• fully penetrant hearing loss in adult mutant mice (J:56294)
• sensorineural hearing loss arising, most likely, from the deterioration in endocochlear potential (J:94058)

craniofacial
• the temporal bone displayed external malformations due to enlargement of the internal auditory meatus: all three foramina were abnormally enlarged (J:56294)
• the lateral wall of the subarcuate fossa, which houses the lateral aspect of the cerebellum, appeared thinner (J:56294)
• the bone encompassing the superior semicircular canal was also thinner (J:56294)
• in addition, the size of the rostromedial ridge of the temporal bone was reduced (J:56294)
• the mutant stapes were generally thinner than wild-type (J:56294)
• significant variation in stapes morphology among individual mutant mice (J:94058)
• in some cases, the crura of the stapes appeared thinner at their junction with the footplate; in others, the junction adopted a fibrous appearance (J:94058)
• the wild-type stapes footplate had a convex surface, whereas the surface of the mutant footplate appeared flattened (J:56294)
• the sole of wild-type stapes footplate displayed a rounded, slightly eccentric, ovoid morphology; in contrast, the mutant footplate had a polygonal morphology, with a distinct narrowing on one end (J:56294)
• the mutant footplate appeared more plantar than oval in shape and footplate thickness was reduced (J:94058)

skeleton
• the temporal bone displayed external malformations due to enlargement of the internal auditory meatus: all three foramina were abnormally enlarged (J:56294)
• the lateral wall of the subarcuate fossa, which houses the lateral aspect of the cerebellum, appeared thinner (J:56294)
• the bone encompassing the superior semicircular canal was also thinner (J:56294)
• in addition, the size of the rostromedial ridge of the temporal bone was reduced (J:56294)
• the mutant stapes were generally thinner than wild-type (J:56294)
• significant variation in stapes morphology among individual mutant mice (J:94058)
• in some cases, the crura of the stapes appeared thinner at their junction with the footplate; in others, the junction adopted a fibrous appearance (J:94058)
• the wild-type stapes footplate had a convex surface, whereas the surface of the mutant footplate appeared flattened (J:56294)
• the sole of wild-type stapes footplate displayed a rounded, slightly eccentric, ovoid morphology; in contrast, the mutant footplate had a polygonal morphology, with a distinct narrowing on one end (J:56294)
• the mutant footplate appeared more plantar than oval in shape and footplate thickness was reduced (J:94058)
• the fibrocytes of the spiral ligament appeared thinner and less adherent to one another (J:56294)

integument
• mutant whiskers were smaller in size relative to wild-type (J:56294)
• also, whiskers did not display the typical sweeping motion and moved infrequently (J:56294)

Mouse Models of Human Disease
OMIM IDRef(s)
Deafness, X-Linked 2; DFNX2 304400 J:56294