Primary Identifier | MGI:1335073 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 19819 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA-DNA hybrid ribonuclease activity and identical protein binding activity. Acts upstream of or within mitochondrial DNA replication. Located in mitochondrion and nucleus. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2. Orthologous to human RNASEH1 (ribonuclease H1). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality due to growth arrest around E8.5. Mutant embryos have decreased mtDNA content and abnormal mitochondria. Massive apoptosis is observed at E9.5. [provided by MGI curators] |