Primary Identifier | MGI:1920036 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 104884 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 3'-tyrosyl-DNA phosphodiesterase activity; double-stranded DNA binding activity; and single-stranded DNA binding activity. Acts upstream of or within single strand break repair. Located in nucleus. Is expressed in ovary and testis. Used to study spinocerebellar ataxia with axonal neuropathy 1. Human ortholog(s) of this gene implicated in spinocerebellar ataxia with axonal neuropathy 1. Orthologous to human TDP1 (tyrosyl-DNA phosphodiesterase 1). PHENOTYPE: Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan. [provided by MGI curators] |