Primary Identifier | MGI:2442621 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 231868 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to be located in nucleus. Predicted to be part of integrator complex. Is expressed in several structures, including alimentary system; central nervous system; ganglia; sensory organ; and submandibular gland primordium. Orthologous to human INTS15 (integrator complex subunit 15). PHENOTYPE: Mice homozygous for a deletion in exon 2 are embryonic lethal while heterozygotes show severe ocular malformations, including persistence of fetal vasculature, chorioretinal atrophy, corneal opacity, cataract and optic nerve anomaly. Mice with a heterozygous or homozygous deletion in exon 6 exhibit milder eye phenotypes at a lower incidence. [provided by MGI curators] |