| Primary Identifier | MGI:1328355 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 22393 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATPase binding activity. Involved in several processes, including negative regulation of apoptotic process; protein stabilization; and regulation of protein metabolic process. Located in endoplasmic reticulum. Is expressed in several structures, including brain; craniocervical region bone; diaphragm; stomach; and vertebral axis musculature. Used to study Wolfram syndrome 1 and nonsyndromic deafness. Human ortholog(s) of this gene implicated in several diseases, including Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple). Orthologous to human WFS1 (wolframin ER transmembrane glycoprotein). PHENOTYPE: Homozygous null mice typically exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress. Mice homozygous for a knock-out allele exhibit reduced male fertility associated with alterations in sperm morphology and a reduced number of spermatogenic cells. Homozygosity for the p.E864K mutation leads to vestibular defects and early onset deafness. Homozygous KO affects cochlear hair cells and leads to late onset hearing deficits. [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
