| Primary Identifier | MGI:1929183 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 64930 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables ATPase inhibitor activity. Involved in associative learning and protein stabilization. Acts upstream of or within several processes, including memory T cell differentiation; negative regulation of cell size; and nervous system development. Located in cytoplasm. Is active in postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; hepatic primordium; liver; and retina. Used to study anterior segment dysgenesis; autism spectrum disorder; autosomal recessive polycystic kidney disease; spinal disease; and tuberous sclerosis. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Orthologous to human TSC1 (TSC complex subunit 1). PHENOTYPE: Homozygous null mutants show liver hypoplasia, open neural tube and die by embryonic day 10.5-11.5. Heterozygotes develop kidney cystadenomas and liver hemangiomas. Conditional astrocyte-specific nulls show increased astrocyte numbers and seizures. [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
