| Primary Identifier | MGI:2387629 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230908 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and pre-mRNA intronic binding activity. Involved in positive regulation of protein import into nucleus; regulation of circadian rhythm; and regulation of protein stability. Acts upstream of or within RNA splicing. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; genitourinary system; and heart. Used to study Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; amyotrophic lateral sclerosis type 10; and frontotemporal dementia. Human ortholog(s) of this gene implicated in Parkinson's disease; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 10; and motor neuron disease. Orthologous to human TARDBP (TAR DNA binding protein). PHENOTYPE: Homozygous deficient mice display embryonic lethality before somite formation with impaired inner cell mass proliferation. Substitutions in RRM2 or low-complexity (LCD) domains affect mRNA splicing. Homozygosity for these mutations is embryonic lethal on B6 strain backgrounds. The LCD mutation leads to an adult-onset neuromuscular phenotype accompanied by motor neuron loss and neurodegenerative changes on B6-D2 background. Heterozygosity for p.N267S 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
