| Primary Identifier | MGI:95832 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14824 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein-folding chaperone binding activity. Involved in several processes, including glial cell activation; positive regulation of cellular component organization; and regulation of defense response. Acts upstream of or within several processes, including blastocyst hatching; locomotory exploration behavior; and positive regulation of cell population proliferation. Located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. Is active in cerebellar climbing fiber to Purkinje cell synapse. Is expressed in several structures, including brain; early conceptus; gonad; placenta; and skin. Used to study Grn-related frontotemporal lobar degeneration with Tdp43 inclusions and nephrogenic diabetes insipidus. Human ortholog(s) of this gene implicated in dementia (multiple); neurodegenerative disease (multiple); neuronal ceroid lipofuscinosis 11; and primary progressive multiple sclerosis. Orthologous to human GRN (granulin precursor). PHENOTYPE: Mice homozygous for some knock-out alleles display enhanced macrophage functions. Mice homozygous for another knock-out allele display reproductive and behavioral abnormalities. Mice homozygous for a third null allele display premature death and increased cellular aging. Heterozygosity for p.R504* mutation affects neural stem cells and leads to neurological defects. [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
