Primary Identifier | MGI:1916233 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 72772 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in mitotic G2 DNA damage checkpoint signaling; regulation of ER to Golgi vesicle-mediated transport; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Predicted to be located in endoplasmic reticulum. Predicted to be part of Dsl1/NZR complex. Is expressed in several structures, including alimentary system; brain; connective tissue; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in infantile liver failure syndrome. Orthologous to human RINT1 (RAD50 interactor 1). PHENOTYPE: Mice homozygous for a mutant allele exhibit early embryonic lethality. Mice heterozygous for a mutant allele exhibit premature death with a life span of 24 months and increased multiple tumor incidence. [provided by MGI curators] |