Phenotypes Associated with This Genotype

Genotype
MGI:5903891

• Allelic Composition: Ildr1^tm1.1Lwa/Ildr1^tm1.1Lwa
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

hearing/vestibular/ear

cochlear outer hair cell degeneration ( J:221594 )

• mice begin to exhibit OHC degeneration in the basal turns of the organ of Corti from around P15

• different degrees of OHC degeneration are detected in the basal, middle, and apical turns and ~60% of OHCs are lost in the whole cochlea by P15

• at P21, no OHCs are seen in the basal turns, almost no OHCs are left in the middle turns, and only a few OHCs are seen in the apical turns

• by P28, no OHCs are visible in any of the turns of the organ of Corti

• however, OHCs are normal at P7, and both supporting cells and IHCs remain intact up to P28

abnormal tunnel of Corti morphology ( J:221594 )

• disruption of the tunnel running through the organ of Corti is detected at P21

absent tunnel of Corti ( J:221594 )

• by P28, the tunnel of the organ of Corti is entirely destroyed (absent)

organ of Corti degeneration ( J:221594 )

• at P15, the structure of the organ of Corti is partly disrupted in the basal turn due to OHC loss while the basal and middle turns are even more disrupted at P21

• by P28, the organ of Corti is completely destroyed throughout the entire cochlea

• however, the organ of Corti is normal at P7

increased or absent threshold for auditory brainstem response ( J:221594 )

• at P21, mice do not respond to any tone bursts (equal to or greater than 100 dB), indicating profound hearing impairment at all frequencies

deafness ( J:221594 )

• mice are profoundly deaf by P21

• deafness is associated with decreased expression of tricellulin in tight junctions and abnormal expression of other hearing related proteins

nervous system

cochlear outer hair cell degeneration ( J:221594 )

• mice begin to exhibit OHC degeneration in the basal turns of the organ of Corti from around P15

• different degrees of OHC degeneration are detected in the basal, middle, and apical turns and ~60% of OHCs are lost in the whole cochlea by P15

• at P21, no OHCs are seen in the basal turns, almost no OHCs are left in the middle turns, and only a few OHCs are seen in the apical turns

• by P28, no OHCs are visible in any of the turns of the organ of Corti

• however, OHCs are normal at P7, and both supporting cells and IHCs remain intact up to P28

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 42		DOID:0110500	OMIM:609646	J:221594