|
Symbol Name ID |
Kif1a
kinesin family member 1A MGI:108391 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Ankle clonus |
Areflexia of lower limbs |
Spasticity |
Appendicular spasticity |
Lower limb spasticity |
Spastic paraplegia |
Progressive spastic paraplegia |
Spastic gait |
Scissor gait |
Peripheral axonal neuropathy |
Cerebral atrophy |
Cerebellar vermis atrophy |
Cerebellar atrophy |
Diffuse cerebellar atrophy |
Ataxia |
Dysmetria |
Babinski sign |
Absent speech |
Delayed speech and language development |
Intellectual disability |
Hyperreflexia |
Lower limb hyperreflexia |
Hyporeflexia |
Inability to walk |
Unsteady gait |
Global developmental delay |
Peripheral neuropathy |
Sensorimotor neuropathy |
Seizure |
Somatic sensory dysfunction |
Hypoesthesia |
Distal sensory impairment |
Impaired distal proprioception |
Impaired distal vibration sensation |
| Disease(s) Associated with KIF1A | |||||||||||||||||||||||||||||||||||
| hereditary sensory neuropathy type 2C | |||||||||||||||||||||||||||||||||||
| hereditary spastic paraplegia 30 | |||||||||||||||||||||||||||||||||||
| NESCAV syndrome |
| Mouse Phenotypes | abnormal synaptic vesicle number |
neuron degeneration |
axon degeneration |
abnormal nervous system physiology |
abnormal synaptic vesicle clustering |
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| Availability | Mouse Genotype | |||||
| Kif1atm1Noh/Kif1atm1Noh | ||||||
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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