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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gjb2tm1Kkam
targeted mutation 1, Kazusaku Kamiya
MGI:5615096
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Gjb2tm1Kkam/Gjb2tm1Kkam
Tg(Mpz-cre)94Imeg/0
involves: 129S4/SvJae * C57BL/6J MGI:5615099


Genotype
MGI:5615099
cn1
Allelic
Composition
Gjb2tm1Kkam/Gjb2tm1Kkam
Tg(Mpz-cre)94Imeg/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb2tm1Kkam mutation (0 available); any Gjb2 mutation (21 available)
Tg(Mpz-cre)94Imeg mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• cochleae show fragmented, small vesicle-like gap junction plaques resulting in diminished total plaque areas at E17.5
• gap junction plaque disruption is already seen at the initial stage of formation at E14.5
• mice form gap junctions in the inner sulcus cells of the cochleae, although gap junctions are sometimes discontinuous with excessive endocytosis or abnormally condensed intermembrane layers around the gap junctions
• larger numbers of caveolae and vesicles are seen at cell borders of inner sulcus cells in 5 week old mutants
• an increase in caveolar structures is seen at the fragmented small vesicle-like gap junction plaques of cochleae, indicating endocytosis
• impaired ability to propagate calcium oscillations from cell to cell in the cochlea at P5 (S3), however the frequency of calcium oscillations do not change
• auditory brainstem response recordings show a threshold shift for both 8 kHz and 20 kHz in 7 week old mutants
• severe sensorineural hearing loss

cellular
• larger numbers of caveolae and vesicles are seen at cell borders of inner sulcus cells in 5 week old mutants
• an increase in caveolar structures is seen at the fragmented small vesicle-like gap junction plaques of cochleae, indicating endocytosis





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory