|
Symbol Name ID |
Gdap1
ganglioside-induced differentiation-associated-protein 1 MGI:1338002 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Decreased Achilles reflex |
Hyporeflexia of upper limbs |
Oculomotor nerve palsy |
Frequent falls |
CNS hypomyelination |
Decreased number of peripheral myelinated nerve fibers |
Decreased number of large peripheral myelinated nerve fibers |
Decreased number of small peripheral myelinated nerve fibers |
Onion bulb formation |
Basal lamina onion bulb formation |
Peripheral demyelination |
Segmental peripheral demyelination |
Demyelinating peripheral neuropathy |
Hypertrophic nerve changes |
Peripheral axonal degeneration |
Axonal degeneration |
Axonal loss |
Axonal regeneration |
Clusters of axonal regeneration |
Chronic axonal neuropathy |
Poor fine motor coordination |
Poor gross motor coordination |
Vocal cord paresis |
Abducens palsy |
Decreased motor nerve conduction velocity |
Motor conduction block |
Decreased sensory nerve conduction velocity |
Decreased nerve conduction velocity |
Decreased distal sensory nerve action potential |
Obstructive sleep apnea |
Reduced tendon reflexes |
Areflexia |
Hyporeflexia |
Impaired tandem gait |
Inability to walk |
Inability to walk by childhood/adolescence |
Loss of ambulation |
Steppage gait |
Unsteady gait |
Motor delay |
Peripheral neuropathy |
Sensorimotor neuropathy |
Sensory neuropathy |
Impaired pain sensation |
Impaired tactile sensation |
Impaired distal tactile sensation |
Distal sensory impairment |
Impaired distal proprioception |
Impaired vibratory sensation |
Impaired distal vibration sensation |
| Disease(s) Associated with GDAP1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease axonal type 2C | ||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease axonal type 2K | ||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease recessive intermediate A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease type 4A |
| Mouse Phenotypes | nervous system phenotype |
abnormal axon extension |
abnormal motor neuron morphology |
motor neuron degeneration |
abnormal neurite morphology |
abnormal neuromuscular synapse morphology |
chromatolysis |
abnormal dorsal root ganglion morphology |
dysmyelination |
abnormal action potential |
decreased nerve conduction velocity |
abnormal axonal transport |
|
| Availability | Mouse Genotype | ||||||||||||
| Gdap1tm1.1Ics/Gdap1tm1.1Ics | |||||||||||||
| Gdap1tm1.2Geno/Gdap1tm1.2Geno | |||||||||||||
| Gdap1tm1Ics/Gdap1tm1Ics Tg(Mpz-cre)26Mes/0 (conditional) |
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| Gdap1tm1Ics/Gdap1tm1Ics Mnx1tm4(cre)Tmj/Mnx1+ (conditional) |
* | ||||||||||||
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 04/30/2024 MGI 6.23 |
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