Primary Identifier | MGI:96013 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 107435 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable histone H4K12 acetyltransferase activity. Predicted to be involved in subtelomeric heterochromatin formation. Predicted to be located in chromatin and nucleoplasm. Predicted to be part of protein-containing complex. Is expressed in several structures, including brain; liver; optic nerve; testis; and thymus primordium. Orthologous to human HAT1 (histone acetyltransferase 1). PHENOTYPE: Homozygous null mice exhibit prenatal, perinatal and neonatal lethality, impaired lung maturation, respiratory failure, craniofacial defects, and reduced fibroblast proliferation. Heterozygotes show premature death, early-onset aging phenotypes including lordokyphosis, muscle atrophy, loss of subcutaneous fat and increased tumor incidence, and mitochondrial defects. [provided by MGI curators] |