prenatal lethality, complete penetrance_Twnk<tm1.2Lrsn>/Twnk<tm1.2Lrsn>

http://metadb.riken.jp/0011091IC57BL6Twnktm12LrsnTwnktm12LrsnTwnktm12Lrsn

prenatal lethality, complete penetrance_Twnk<tm1.2Lrsn>/Twnk<tm1.2Lrsn>

表現型アノテーション

MGI marker

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

• twinkle mtDNA helicase
  http://metadb.riken.jp/db/mgi_rdf/MGI:2137410

遺伝子型

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

• Twnk<tm1.2Lrsn>/Twnk<tm1.2Lrsn>

アレルシンボル

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

• Twnk<tm1.2Lrsn>

遺伝的背景

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

• involves: C57BL/6

MP annotation

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

• complete prenatal lethality
  http://purl.obolibrary.org/obo/MP_0011091

文献

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

• Dusanka. Milenkovic, et.al., TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23393161