Primary Identifier | MGI:1915760 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 68510 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including U2 snRNA 3'-end processing; inner cell mass cell proliferation; and negative regulation of cysteine-type endopeptidase activity. Located in nucleus. Is expressed in early conceptus. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies. Orthologous to human INTS1 (integrator complex subunit 1). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. [provided by MGI curators] |