Primary Identifier | MGI:1921605 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 74355 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables ATP hydrolysis activity and protein homodimerization activity. Acts upstream of or within inactivation of paternal X chromosome by genomic imprinting. Located in Barr body. Is expressed in several structures, including blastocyst and genitourinary system. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). PHENOTYPE: Females homozygous for an ENU-induced allele die at midgestation showing placental defects and hypomethylation at X-linked genes that are normally subject to X-inactivation, whereas homozygous males are viable. Females homozygous for a gene trap allele die before E13.5, whereas males remain healthy. [provided by MGI curators] |