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 8.0.0) 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] |