Primary Identifier | MGI:95415 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 13876 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity. Predicted to be involved in cell differentiation and positive regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and skeleton. Used to study osteoarthritis. Human ortholog(s) of this gene implicated in hereditary lymphedema and myeloid leukemia. Orthologous to human ERG (ETS transcription factor ERG). PHENOTYPE: Mice homozygous for an ENU-induced mutation or a knock-out of isoforms 5 - 7 die during organogenesis and exhibit embryonic growth retardation. Mice homozygous for a knock-out of isoforms 1 - 4 are viable and fertile with no overt abnnormalities. Homozygous knock-out mice develop pulmonary venoocclusive disease, with pancytopenia, pulmonary hemorrhage and hypertension, and heart right ventricle hypertrophy. [provided by MGI curators] |