| Primary Identifier | MGI:109514 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 13014 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cysteine-type endopeptidase inhibitor activity and protease binding activity. Acts upstream of or within adult locomotory behavior. Located in collagen-containing extracellular matrix. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study Unverricht-Lundborg syndrome. Human ortholog(s) of this gene implicated in Unverricht-Lundborg syndrome and progressive myoclonus epilepsy 1A. Orthologous to human CSTB (cystatin B). PHENOTYPE: Mice homozygous for a null mutation provide a model for Unverricht-Lundborg disease (EPM1) by displaying progressive ataxia and myoclonic seizures. Notably, homozygous null mice exhibit apoptosis in cerebellar granule cells, implying that a similar mechanism of cell loss may occur in human EPM1. [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
