| Primary Identifier | MGI:1923549 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 76299 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable protein disulfide isomerase activity. Predicted to be involved in several processes, including protein folding; response to endoplasmic reticulum stress; and response to unfolded protein. Located in cell surface. Is expressed in heart and pericardium; jaw; and orbito-sphenoid. Orthologous to human ERP44 (endoplasmic reticulum protein 44). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit light coat color, small stature, and scaly tail. Mice homozygous for a knock-out allele show incomplete embryonic lethality, low survival rate, premature death, abnormal heart morphology, altered Ca2+ dynamics, increased reactive oxygen species levels, activated ER stress gene profiles, and apoptotic cell death. Aortic-banded heterozygotes show enhanced ER stress activation, increased mortality, and diastolic cardiac dysfunction with decreased fractional shortening. [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
