Phenotypes associated with this allele

• Allele Symbol: Ush1g^tm1.1Ugds
• Allele Name: targeted mutation 1.1, Unite de Genetique des Deficits Sensoriels
• Allele ID: MGI:4361359
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Myo15a^tm1.1(cre)Ugds/Myo15a^+ Ush1g^tm1.1Ugds/Ush1g^tm1.1Ugds	involves: 129S1/SvImJ * C57BL/6J	MGI:4950049

Genotype
MGI:4950049

cn1

• Allelic Composition: Myo15a^{tm1.1(cre)Ugds}/Myo15a⁺; Ush1g^tm1.1Ugds/Ush1g^tm1.1Ugds
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

hearing/vestibular/ear

abnormal cochlear hair bundle tip links morphology ( J:171218 )

• fewer tip links are seen in inner hair cell medium row stereocilia at P8

abnormal inner hair cell stereociliary bundle morphology ( J:171218 )

• at P8 in the medium row stereocilia only a few prolate-shaped stereocilia tips and tip links are seen

decreased inner hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the small row

short inner hair cell stereocilia ( J:171218 )

• at P9 in inner hair cells from the middle to apex of the cochlea, some stereocilia in the small and medium rows are shorter

• at P22 the reduction in length is more pronounced

abnormal outer hair cell stereociliary bundle morphology ( J:171218 )

short outer hair cell stereocilia ( J:171218 )

• at P9 in inner hair cells from the base of the cochlea, some stereocilia in the small and medium rows are shorter

• at P22 the reduction in length is more pronounced

decreased outer hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the small row

abnormal hair cell physiology ( J:171218 )

abnormal hair cell mechanoelectric transduction ( J:171218 )

• at P8 maximal amplitude is decreased in inner hair cells at the apex and middle of the cochlea

• however, at P8 MET sensitivity to hair bundle displacement is preserved, current adaptation is normal, and MET current in outer hair cells are normal

abnormal hearing electrophysiology ( J:171218 )

absent cochlear microphonics ( J:171218 )

• at P13 the round window cochlear microphonics in response to sound stimulation are not detected

• undetectable from P15 on

increased or absent threshold for auditory brainstem response ( J:171218 )

• lack identifiable ABR waves for all sound frequencies even at the highest intensity tested (105 dB SPL) at P13

absent distortion product otoacoustic emissions ( J:171218 )

• at P13 amplitudes at 15 kHz are not significantly different from background noise at all sound intensities tested

• however, at P13 amplitudes at 10 kHz are close to controls in response to 70 dB SPL stimuli

• undetectable from P15 on

deafness ( J:171218 )

• profoundly deaf

abnormal vestibular system physiology ( J:171218 )

• progressive vestibular dysfunction starting at P21

behavior/neurological

circling ( J:171218 )

• starting at P21

nervous system

abnormal cochlear hair bundle tip links morphology ( J:171218 )

• fewer tip links are seen in inner hair cell medium row stereocilia at P8

abnormal inner hair cell stereociliary bundle morphology ( J:171218 )

• at P8 in the medium row stereocilia only a few prolate-shaped stereocilia tips and tip links are seen

decreased inner hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the small row

short inner hair cell stereocilia ( J:171218 )

• at P9 in inner hair cells from the middle to apex of the cochlea, some stereocilia in the small and medium rows are shorter

• at P22 the reduction in length is more pronounced

abnormal outer hair cell stereociliary bundle morphology ( J:171218 )

short outer hair cell stereocilia ( J:171218 )

• at P9 in inner hair cells from the base of the cochlea, some stereocilia in the small and medium rows are shorter

• at P22 the reduction in length is more pronounced

decreased outer hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the small row

abnormal hair cell physiology ( J:171218 )

absent cochlear microphonics ( J:171218 )

• at P13 the round window cochlear microphonics in response to sound stimulation are not detected

• undetectable from P15 on

abnormal hair cell mechanoelectric transduction ( J:171218 )

• at P8 maximal amplitude is decreased in inner hair cells at the apex and middle of the cochlea

• however, at P8 MET sensitivity to hair bundle displacement is preserved, current adaptation is normal, and MET current in outer hair cells are normal