| Primary Identifier | MGI:104820 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 15382 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity; nucleic acid binding activity; and protein domain specific binding activity. Acts upstream of or within alternative mRNA splicing, via spliceosome. Located in nucleus. Is active in synapse. Is expressed in several structures, including 1-cell stage embryo; central nervous system; genitourinary system; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 20; distal myopathy 3; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3; and tropical spastic paraparesis. Orthologous to several human genes including HNRNPA1L2 (heterogeneous nuclear ribonucleoprotein A1 like 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, dilated cardiacmyopathy, and hypoplastic tongue and intercostal muscles. Mice heterozygous for a knock-out allele exhibit altered cardiac signaling, increased heart rate and increased systemic arterial systolic blood pressure. [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
