Phenotypes associated with this allele

• Allele Symbol: Pou3f4^tm1Cren
• Allele Name: targeted mutation 1, Bryan Crenshaw III
• Allele ID: MGI:1857990
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Pou3f4^tm1Cren/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3046172

Genotype
MGI:3046172

ot1

• Allelic Composition: Pou3f4^tm1Cren/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal pinna reflex ( J:56294 )

♂ • 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

head bobbing ( J:56294 )

♂ • most mutants displayed vertical head bobbing; the degree of head bobbing was variable

abnormal gait ( J:56294 )

♂

hearing/vestibular/ear

abnormal internal auditory canal morphology ( J:56294 )

♂ • enlargement of the internal auditory meatus

abnormal bony labyrinth ( J:56294 )

♂ • size reduction of both the thickness of the bony labyrinth and the perilymphatic space encompassing the SSCC

abnormal oval window morphology ( J:94058 )

♂ • the oval window of the temporal bone varied in the size and shape of its opening

abnormal stapes morphology ( J:56294 , J:94058 )

♂ • the mutant stapes were generally thinner than wild-type (J:56294)

♂ • significant variation in stapes morphology among individual mutant mice (J:94058)

abnormal stapes crus morpholgy ( 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

abnormal stapes footplate morphology ( J:56294 , 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)

abnormal cochlea morphology ( J:56294 )

♂ • cochlear hypoplasia was most prominent in the basal turn

♂ • 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

abnormal Reissner membrane morphology ( J:56294 )

♂ • Reissner's membrane often appeared to be less tightly adherent to the fibrocytes

distended Reissner membrane ( J:56294 )

♂ • all mutants appeared to exhibit distension of Reissner's membrane

abnormal spiral ligament fibrocyte morphology ( J:56294 )

♂ • the fibrocytes of the spiral ligament appeared thinner and less adherent to one another

abnormal scala tympani morphology ( J:56294 )

♂ • the scala tympani adopted a flattened elliptical shape

small scala tympani ( J:56294 )

♂ • the scala tympani showed an apparent reduction in volume

abnormal spiral limbus morphology ( J:56294 )

♂ • the spiral limbus was reduced in size

decreased cochlea coiling ( J:56294 )

♂ • adult cochleae exhibited several dysplastic features, including a reduction in the coiling, or number of turns

♂ • ~60% of mutant cochleae showed a reduction in the number of turns to one and one-half turns

♂ • ~1/4th of mutant cochleae showed even fewer turns, with the least amount of coiling being a three-fourth turn

♂ • only 1/10th of the mutant cochleae showed the normal one and three-fourth turns

♂ • the amount of coiling differed between the left and right cochlea of the same mutant animal

abnormal lateral semicircular canal morphology ( J:56294 )

♂ • in some mutants, the lateral SCC exhibited either a constriction or dysplasia

♂ • no malformations were observed in the posterior SCCs

abnormal superior semicircular canal morphology ( J:56294 , J:112541 )

♂ • 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)

dilated endolymphatic duct ( J:56294 )

♂ • all mutants appeared to have inner ear hydrops

decreased endocochlear potential ( J:94058 )

♂ • young adults (6-10 weeks of age) exhibited a significantly reduced EP response relative to wild-type mice

increased or absent threshold for auditory brainstem response ( J:94058 )

♂ • ABR thresholds are elevated by >60 dB at frequencies between 10.0 and 20.0 kHz

conductive hearing loss ( 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

♂ • 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

♂ • the conductive component of hearing loss is small compared to the additional 47+ dB of sensorineural hearing loss arising from the deterioration in EP

deafness ( J:56294 )

♂ • fully penetrant hearing loss in adult mutant mice

sensorineural hearing loss ( J:94058 )

♂ • sensorineural hearing loss arising, most likely, from the deterioration in endocochlear potential

craniofacial

abnormal internal auditory canal morphology ( J:56294 )

♂ • enlargement of the internal auditory meatus

abnormal temporal bone morphology ( J:56294 )

♂ • the temporal bone displayed external malformations due to enlargement of the internal auditory meatus: all three foramina were abnormally enlarged

♂ • the bone encompassing the superior semicircular canal was thinner

♂ • in addition, the size of the rostromedial ridge of the temporal bone was reduced

abnormal subarcuate fossa morphology ( J:56294 )

♂ • the lateral wall of the subarcuate fossa, which houses the lateral aspect of the cerebellum, appeared thinner

abnormal bony labyrinth ( J:56294 )

♂ • size reduction of both the thickness of the bony labyrinth and the perilymphatic space encompassing the SSCC

abnormal oval window morphology ( J:94058 )

♂ • the oval window of the temporal bone varied in the size and shape of its opening

abnormal stapes morphology ( J:56294 , J:94058 )

♂ • the mutant stapes were generally thinner than wild-type (J:56294)

♂ • significant variation in stapes morphology among individual mutant mice (J:94058)

abnormal stapes crus morpholgy ( 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

abnormal stapes footplate morphology ( J:56294 , 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

abnormal internal auditory canal morphology ( J:56294 )

♂ • enlargement of the internal auditory meatus

abnormal temporal bone morphology ( J:56294 )

♂ • the temporal bone displayed external malformations due to enlargement of the internal auditory meatus: all three foramina were abnormally enlarged

♂ • the bone encompassing the superior semicircular canal was thinner

♂ • in addition, the size of the rostromedial ridge of the temporal bone was reduced

abnormal subarcuate fossa morphology ( J:56294 )

♂ • the lateral wall of the subarcuate fossa, which houses the lateral aspect of the cerebellum, appeared thinner

abnormal bony labyrinth ( J:56294 )

♂ • size reduction of both the thickness of the bony labyrinth and the perilymphatic space encompassing the SSCC

abnormal oval window morphology ( J:94058 )

♂ • the oval window of the temporal bone varied in the size and shape of its opening

abnormal stapes morphology ( J:56294 , J:94058 )

♂ • the mutant stapes were generally thinner than wild-type (J:56294)

♂ • significant variation in stapes morphology among individual mutant mice (J:94058)

abnormal stapes crus morpholgy ( 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

abnormal stapes footplate morphology ( J:56294 , 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)

abnormal spiral ligament fibrocyte morphology ( J:56294 )

♂ • the fibrocytes of the spiral ligament appeared thinner and less adherent to one another

integument

short vibrissae ( J:56294 )

♂ • mutant whiskers were smaller in size relative to wild-type

♂ • also, whiskers did not display the typical sweeping motion and moved infrequently