| 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 9.1.0) Enables histone binding activity. Acts upstream of or within chromatin remodeling. Located in condensed chromosome; nucleus; and pericentric heterochromatin. Is expressed in several structures, including 4-8 cell stage conceptus; blastocyst-stage conceptus; central nervous system; genitourinary system; and lung. 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] |