Primary Identifier | MGI:1353499 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 22385 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables histone binding activity. Acts upstream of or within chromatin remodeling. Located in condensed chromosome and nucleus. Part of pericentric heterochromatin. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; lung; and retina. Used to study Williams-Beuren syndrome. Orthologous to human BAZ1B (bromodomain adjacent to zinc finger domain 1B). PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects. [provided by MGI curators] |