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 7.0.0) Is expressed in body cavity or lining; limb; tail; and vertebral axis musculature. Orthologous to human ASNSD1 (asparagine synthetase domain containing 1). PHENOTYPE: Mice homozygous for a null allele exhibit partial preweaning lethality and handling-associated seizures and develop a progressive degenerative myopathy with severe muscle weakness and myosteatosis but no signs of lipotoxicity despite their extremely increased body fat percentage and low skeletal muscle mass. [provided by MGI curators] |