| Primary Identifier | MGI:1917646 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 70396 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable asparagine synthase (glutamine-hydrolyzing) activity. Acts upstream of or within adipose tissue development; skeletal muscle tissue development; and transdifferentiation. Is expressed in body cavity or lining; limb; tail; and vertebral axis musculature. Used to study myopathy. Orthologous to human ASNSD1 (asparagine synthetase domain containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced viability at weaning, handling-induced seizures, and decreased systolic blood pressure, and develop a progressive degenerative myopathy with severe muscle weakness and myosteatosis but no signs of lipotoxicity despite extremely increased body fat percentage and low skeletal muscle mass. [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
