Primary Identifier | MGI:1860486 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 56196 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including metal ion binding activity; phosphoric diester hydrolase activity; and single-stranded DNA binding activity. Predicted to be involved in double-strand break repair and neuron development. Predicted to be located in aggresome and nuclear body. Predicted to be active in PML body and cytoplasm. Is expressed in several structures, including hemolymphoid system; limb; submandibular gland primordium; telencephalon; and testis. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 23. Orthologous to human TDP2 (tyrosyl-DNA phosphodiesterase 2). PHENOTYPE: Homozygous mutant mice carrying a gene trap insertion into intron 5 but subsequently shown to harbor a partial duplication of the wild-type allele at the ES cell level are born with a normal Mendelian distribution. [provided by MGI curators] |