decreased mitochondrial DNA content_Tk2<tm1Mihi>/Tk2<tm1Mihi>

http://metadb.riken.jp/0011639I129X1SvJC57BL6JTk2tm1MihiTk2tm1MihiTk2tm1Mihi

decreased mitochondrial DNA content_Tk2<tm1Mihi>/Tk2<tm1Mihi>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• thymidine kinase 2, mitochondrial
  http://metadb.riken.jp/db/mgi_rdf/MGI:1913266

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Tk2<tm1Mihi>/Tk2<tm1Mihi>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Tk2<tm1Mihi>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129X1/SvJ * C57BL/6J

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• decreased mitochondrial DNA content
  http://purl.obolibrary.org/obo/MP_0011639

文献

http://purl.org/net/cito/citesAsAuthority

• Beatriz. Dorado, et.al., Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/20940150
• Hasan O. Akman, et.al., Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance., Human molecular genetics, 2008, 17
  http://rdf.ncbi.nlm.nih.gov/pubmed/18467430