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Symbol Name ID |
Trpv4
transient receptor potential cation channel, subfamily V, member 4 MGI:1926945 |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial palsy |
Torticollis |
Oculomotor nerve palsy |
Difficulty walking |
Peripheral axonal neuropathy |
Hydrocephalus |
Vocal cord paresis |
Abducens palsy |
Decreased distal sensory nerve action potential |
Intellectual disability |
Obstructive sleep apnea |
Areflexia |
Hyporeflexia |
Gait disturbance |
Broad-based gait |
Waddling gait |
Motor delay |
Motor polyneuropathy |
Sensory neuropathy |
Distal sensory impairment |
| Disease(s) Associated with TRPV4 | ||||||||||||||||||||
| autosomal dominant distal hereditary motor neuronopathy 8 | ||||||||||||||||||||
| Charcot-Marie-Tooth disease axonal type 2C | ||||||||||||||||||||
| metatropic dysplasia | ||||||||||||||||||||
| parastremmatic dwarfism | ||||||||||||||||||||
| scapuloperoneal spinal muscular atrophy | ||||||||||||||||||||
| spondyloepiphyseal dysplasia Maroteaux type | ||||||||||||||||||||
| spondylometaphyseal dysplasia Kozlowski type |
| Mouse Phenotypes | abnormal neuron physiology |
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| Availability | Mouse Genotype | |
| Trpv4tm1Rck/Trpv4tm1Rck | ||
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 04/23/2024 MGI 6.23 |
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