About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5903891
Allelic
Composition
Ildr1tm1.1Lwa/Ildr1tm1.1Lwa
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ildr1tm1.1Lwa mutation (0 available); any Ildr1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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
• disruption of the tunnel running through the organ of Corti is detected at P21
• by P28, the tunnel of the organ of Corti is entirely destroyed (absent)
• 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
• at P21, mice do not respond to any tone bursts (equal to or greater than 100 dB), indicating profound hearing impairment at all frequencies
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/23/2021
MGI 6.16
The Jackson Laboratory