Phenotypes Associated with This Genotype

Genotype
MGI:5691406

• Allelic Composition: Ildr1^{tm1(KOMP)Wtsi}/Ildr1^{tm1(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0384_1_C10

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:221592 )

N • mutant mice exhibit normal mechanotransduction activity of the outer and inner hair cells of the cochlea until at least P3, indicating that these cells develop and function normally then degenerate

abnormal organ of Corti morphology ( J:221592 )

• at P35, the organ of Corti has a collapsed appearance

abnormal inner hair cell stereociliary bundle morphology ( J:221592 )

• disorganized at P35

cochlear inner hair cell degeneration ( J:221592 )

• degenerate appearance by P35

• normal appearance at P3, P10, P12 and P15

• presence of cleaved caspase-3 signal between P10 and P12 in the IHCs indicate that degenerative loss is via apoptosis

cochlear outer hair cell degeneration ( J:217755 , J:221592 )

• outer hair cells are degenerating by P14, with some outer hair cells remaining in the apical 20% of the cochlear duct (J:217755)

• degenerate appearance by P35 (J:221592)

• normal appearance at P3 and P10, with degenerate cells appearing by P12 (J:221592)

• presence of cleaved caspase-3 signal between P10 and P12 in the OHCs indicate that degenerative loss is via apoptosis (J:221592)

abnormal endocochlear potential ( J:217755 )

• the negative endocochlear potential under anoxic conditions in P14 mice is smaller

• however, the magnitude of the positive endocochlear potential at P14 and in 10 week old mice is not altered

increased or absent threshold for auditory brainstem response ( J:217755 , J:221592 )

• no ABRs are detected for any of the test stimuli at 2, 3, and 8 weeks of age (J:217755)

• at postnatal day 35, all mice exhibit elevated ABR thresholds at all frequencies examined (J:221592)

deafness ( J:217755 )

• early-onset and profound hearing loss

sensorineural hearing loss ( J:221592 )

• no abnormalities were found in the tympanic membrane nor ossicles of the middle ear

nervous system

abnormal inner hair cell stereociliary bundle morphology ( J:221592 )

• disorganized at P35

cochlear inner hair cell degeneration ( J:221592 )

• degenerate appearance by P35

• normal appearance at P3, P10, P12 and P15

• presence of cleaved caspase-3 signal between P10 and P12 in the IHCs indicate that degenerative loss is via apoptosis

cochlear outer hair cell degeneration ( J:217755 , J:221592 )

• outer hair cells are degenerating by P14, with some outer hair cells remaining in the apical 20% of the cochlear duct (J:217755)

• degenerate appearance by P35 (J:221592)

• normal appearance at P3 and P10, with degenerate cells appearing by P12 (J:221592)

• presence of cleaved caspase-3 signal between P10 and P12 in the OHCs indicate that degenerative loss is via apoptosis (J:221592)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 42		DOID:0110500	OMIM:609646	J:217755 , J:221592