Primary Identifier | MGI:2138934 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 109241 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable chromatin binding activity. Acts upstream of or within glucose homeostasis; positive regulation of growth hormone receptor signaling pathway; and regulation of growth. Predicted to be located in midbody and nucleoplasm. Predicted to be active in chromocenter and nucleus. Is expressed in several structures, including brain; liver; small intestine; spinal cord; and spleen. Used to study autosomal dominant intellectual developmental disorder. Human ortholog(s) of this gene implicated in autism spectrum disorder and autosomal dominant intellectual developmental disorder 1. Orthologous to human MBD5 (methyl-CpG binding domain protein 5). PHENOTYPE: Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis. [provided by MGI curators] |