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Symbol Name ID |
Sptan1
spectrin alpha, non-erythrocytic 1 MGI:98386 |
| Darker colors indicate more annotations |
| Human Phenotypes | Achilles tendon contracture |
Distal lower limb muscle weakness |
Upper limb amyotrophy |
Foot dorsiflexor weakness |
Upper limb muscle weakness |
Claw hand deformity |
Spastic tetraplegia |
Hypotonia |
Generalized hypotonia |
Difficulty climbing stairs |
Difficulty walking |
Frequent falls |
Distal muscle weakness |
Distal lower limb amyotrophy |
| Disease(s) Associated with SPTAN1 | ||||||||||||||
| autosomal dominant distal hereditary motor neuronopathy 11 | ||||||||||||||
| developmental and epileptic encephalopathy 5 |
| Mouse Phenotypes | thin myocardium compact layer |
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| Availability | Mouse Genotype | |
| Sptan1Gt(RRQ171)Byg/Sptan1Gt(RRQ171)Byg | ||
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 05/21/2024 MGI 6.23 |
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