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 8.0.0) Enables histone binding activity. Involved in chromatin remodeling. Acts upstream of or within chromatin organization. Located in condensed chromosome; nucleus; and 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] |