|
Symbol Name ID |
Scyl1
SCY1-like 1 (S. cerevisiae) MGI:1931787 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Spasticity |
Frequent falls |
Cerebellar vermis atrophy |
Gait ataxia |
Limb ataxia |
Progressive cerebellar ataxia |
Tremor |
Intention tremor |
Stuttering |
Intellectual disability, mild |
Hyperreflexia |
Hyporeflexia |
Global developmental delay |
Motor delay |
Peripheral neuropathy |
Sensorimotor neuropathy |
Somatic sensory dysfunction |
Impaired pain sensation |
Paresthesia |
Distal sensory impairment |
| Disease(s) Associated with SCYL1 | ||||||||||||||||||||
| autosomal recessive spinocerebellar ataxia 21 |
| Mouse Phenotypes | nervous system phenotype |
microgliosis |
abnormal cerebellum morphology |
abnormal Purkinje cell morphology |
abnormal Purkinje cell dendrite morphology |
decreased Purkinje cell number |
abnormal cerebellum vermis morphology |
astrocytosis |
gliosis |
abnormal innervation |
abnormal innervation pattern to muscle |
abnormal motor neuron morphology |
decreased motor neuron number |
motor neuron degeneration |
abnormal axon morphology |
abnormal myelin sheath morphology |
abnormal neuromuscular synapse morphology |
abnormal somatic nervous system morphology |
abnormal optic nerve morphology |
abnormal sciatic nerve morphology |
peripheral nervous system degeneration |
abnormal nervous system physiology |
abnormal myelination |
demyelination |
abnormal peripheral nervous system regeneration |
abnormal motor nerve collateral sprouting |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||
| Scyl1mdf/Scyl1mdf | |||||||||||||||||||||||||||
| Scyl1tm1.1Spel/Scyl1tm1.1Spel | |||||||||||||||||||||||||||
| Scyl1tm1Spel/Scyl1tm1Spel Tg(Ckmm-cre)5Khn/0 (conditional) |
* | ||||||||||||||||||||||||||
| Scyl1tm1Spel/Scyl1tm1Spel Tg(Nes-cre)1Kln/0 (conditional) |
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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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