| Primary Identifier | MGI:98386 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20740 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables spectrin binding activity. Predicted to be involved in actin cytoskeleton organization. Located in several cellular components, including cuticular plate; fascia adherens; and lateral plasma membrane. Is active in paranodal junction. Is expressed in gut; nervous system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5. Orthologous to human SPTAN1 (spectrin alpha, non-erythrocytic 1). PHENOTYPE: Homozygous deletion of the exons encoding the CCC region are normal. Mice homozygous for a gene trap allele exhibit embryonic lethality and abnormal nervous system, heart and craniofacial morphology. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
