Primary Identifier | MGI:101791 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 16392 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; promoter-specific chromatin binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including heart development; nervous system development; and positive regulation of cytokine production. Acts upstream of or within several processes, including heart development; neuron differentiation; and positive regulation of macromolecule metabolic process. Located in chromatin and nucleus. Is expressed in several structures, including alimentary system; branchial arch; genitourinary system; heart and pericardium; and nervous system. Human ortholog(s) of this gene implicated in atrial fibrillation; congenital heart disease (multiple); diabetes mellitus (multiple); dilated cardiomyopathy; and myocardial infarction. Orthologous to human ISL1 (ISL LIM homeobox 1). PHENOTYPE: Homozygotes for a targeted null mutation fail to develop motor neurons and die by embryonic day 11.5 with abnormal heart and pancreas development. Mice heterozygous for an ENU mutation exhibit chronic otitis media and hearing loss. [provided by MGI curators] |