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PMID:21423608
| Citation |
Manji, SS, Williams, LH, Miller, KA, Ooms, LM, Bahlo, M, Mitchell, CA and Dahl, HH (2011) A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart. PLoS ONE 6:e17607 |
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| Abstract |
Hearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with recessively inherited, non-syndromic progressive hearing loss caused by a mutation in the synaptojanin 2 (Synj2), a central regulatory enzyme in the phosphoinositide-signaling cascade. |
| Links |
PubMed PMC3057978 Online version:10.1371/journal.pone.0017607 |
| Keywords |
Amino Acid Sequence; Amino Acid Substitution/genetics; Animals; Behavior, Animal; Ethylnitrosourea; Hair Cells, Auditory/metabolism; Hair Cells, Auditory/pathology; Hearing Loss, Sensorineural/enzymology; Hearing Loss, Sensorineural/genetics; Hearing Loss, Sensorineural/physiopathology; Male; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Molecular Sequence Data; Mutagenesis/genetics; Mutation/genetics; Nerve Fibers/metabolism; Nerve Fibers/pathology; Nerve Tissue Proteins/chemistry; Nerve Tissue Proteins/genetics; Neural Conduction/physiology; Phosphoric Monoester Hydrolases/chemistry; Phosphoric Monoester Hydrolases/genetics; Spiral Ganglion/metabolism; Spiral Ganglion/pathology; Vestibule, Labyrinth/metabolism; Vestibule, Labyrinth/pathology; Vestibule, Labyrinth/physiopathology |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0090102: cochlea development |
ECO:0000315: |
P |
Fig 1. A gradual loss of inner and outer hair cells was detected in 8 and 12 week old mutant mice, starting in the basal turn of the cochlea and spreading towards the apical region, leading to a collapse of the Organ of Corti. At the same time there was a reduction in the number of spiral ganglia cells and the remaining cells showed increased vacuolation. |
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