Primary Identifier | MGI:2684063 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 228790 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables nuclear retinoic acid receptor binding activity; peroxisome proliferator activated receptor binding activity; and transcription coactivator activity. Involved in several processes, including kidney development; negative regulation of fat cell differentiation; and regulation of intracellular signal transduction. Acts upstream of or within several processes, including heart morphogenesis; hematopoietic or lymphoid organ development; and lung saccule development. Located in nucleus. Is expressed in several structures, including brain; dorsal root ganglion; limb bud; paraxial mesenchyme; and salivary gland. Used to study acute myeloid leukemia; myelodysplastic syndrome; and myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in SM-AHNMD; acute myeloid leukemia; chronic myelomonocytic leukemia; myelodysplastic syndrome; and myelofibrosis. Orthologous to human ASXL1 (ASXL transcriptional regulator 1). PHENOTYPE: Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology. [provided by MGI curators] |