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Phenotypes Associated with This Genotype
Genotype
MGI:7610565
Allelic
Composition
Klc2em1Jgao/Klc2em1Jgao
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Klc2em1Jgao mutation (0 available); any Klc2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• decreased number of BK channels
• mitochondria are concentrated in the center of the cytoplasm rather than along the plasma membrane, under the cuticular plate, and around the nucleus as in controls
• massive outer hair cell loss from the apical region at P40
• however, inner hair cells, spiral ganglion and stria vascularis appear similar to controls
• outer hair cell loss begins by P30 and continues with age with near absence by P80
• outer hair cell loss begins by P30 and continues with age with near absence by P80
• at P40, show low-frequency but not high-frequency hearing loss

cellular
• mitochondria are concentrated in the center of the cytoplasm rather than along the plasma membrane, under the cuticular plate, and around the nucleus as in controls

nervous system
• decreased number of BK channels
• mitochondria are concentrated in the center of the cytoplasm rather than along the plasma membrane, under the cuticular plate, and around the nucleus as in controls
• massive outer hair cell loss from the apical region at P40
• however, inner hair cells, spiral ganglion and stria vascularis appear similar to controls
• outer hair cell loss begins by P30 and continues with age with near absence by P80
• outer hair cell loss begins by P30 and continues with age with near absence by P80

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
nonsyndromic deafness DOID:0050563 J:345577


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)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory