Primary Identifier | MGI:1354947 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 50776 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-directed DNA polymerase activity and identical protein binding activity. Acts upstream of or within in utero embryonic development and mitochondrial DNA replication. Located in mitochondrion. Is expressed in early conceptus and secondary oocyte. Used to study nephrocalcinosis. Human ortholog(s) of this gene implicated in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4; mitochondrial DNA depletion syndrome 16; and mitochondrial DNA depletion syndrome 16B. Orthologous to human POLG2 (DNA polymerase gamma 2, accessory subunit). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and turning, fail to initiate turning, lack mt-Co1 activity, and contain abnormal mitochondria with reduced mtDNA. [provided by MGI curators] |