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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Otoftm1Ugds
targeted mutation 1, Unite de Genetique des Deficits Sensoriels
MGI:3640614
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Otoftm1Ugds/Otoftm1Ugds involves: 129S2/SvPas * C57BL/6 MGI:3693849


Genotype
MGI:3693849
hm1
Allelic
Composition
Otoftm1Ugds/Otoftm1Ugds
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otoftm1Ugds mutation (0 available); any Otof mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• outer hair cells (OHC) and afferent auditory pathway (auditory nerve) are functional in adults (J:116097)
• outer hair cells (OHC) and afferent auditory pathway (auditory nerve) are functional in adults (J:116097)
• structurally abnormal ribbon synapse postsynaptic contacts are observed at P15 (J:116097)
• structurally abnormal ribbon synapse postsynaptic contacts are observed at P15 (J:116097)
• inner hair cells (IHC) of mutants have ~50-60% of normal number of ribbon synapses at P15 (J:116097)
• inner hair cells (IHC) of mutants have ~50-60% of normal number of ribbon synapses at P15 (J:116097)
• depolarization-induced exocytosis of immature (P6) and mature (P15) inner hair cells (IHC) is almost completely abolished in mutants; exocytosis of readily releasable pool (RRP) and sustained secretion of neurotransmitter are both affected (J:116097)
• IHCs lack the fast component of the exocytotic burst even at high calcium concentrations, and slow component is maintained at a smaller amplitude than in wild-type (J:116097)
• depolarization-induced exocytosis of immature (P6) and mature (P15) inner hair cells (IHC) is almost completely abolished in mutants; exocytosis of readily releasable pool (RRP) and sustained secretion of neurotransmitter are both affected (J:116097)
• IHCs lack the fast component of the exocytotic burst even at high calcium concentrations, and slow component is maintained at a smaller amplitude than in wild-type (J:116097)
• mutants analyzed from 3 weeks of age onward show no visible auditory brainstem responses (ABRs) to any intensity of click or tone stimulation (J:116097)
• mutants analyzed from 3 weeks of age onward show no visible auditory brainstem responses (ABRs) to any intensity of click or tone stimulation (J:116097)
• profoundly deaf (J:116097)
• profoundly deaf (J:116097)

nervous system
• structurally abnormal ribbon synapse postsynaptic contacts are observed at P15 (J:116097)
• structurally abnormal ribbon synapse postsynaptic contacts are observed at P15 (J:116097)
• inner hair cells (IHC) of mutants have ~50-60% of normal number of ribbon synapses at P15 (J:116097)
• inner hair cells (IHC) of mutants have ~50-60% of normal number of ribbon synapses at P15 (J:116097)
• depolarization-induced exocytosis of immature (P6) and mature (P15) inner hair cells (IHC) is almost completely abolished in mutants; exocytosis of readily releasable pool (RRP) and sustained secretion of neurotransmitter are both affected (J:116097)
• IHCs lack the fast component of the exocytotic burst even at high calcium concentrations, and slow component is maintained at a smaller amplitude than in wild-type (J:116097)
• depolarization-induced exocytosis of immature (P6) and mature (P15) inner hair cells (IHC) is almost completely abolished in mutants; exocytosis of readily releasable pool (RRP) and sustained secretion of neurotransmitter are both affected (J:116097)
• IHCs lack the fast component of the exocytotic burst even at high calcium concentrations, and slow component is maintained at a smaller amplitude than in wild-type (J:116097)

Mouse Models of Human Disease
OMIM ID Ref(s)
Deafness, Autosomal Recessive 9; DFNB9 601071 J:116097





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory