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

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

pubmed

allele

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

• Tg(Twnk)1Lrsn
  http://metadb.riken.jp/db/mgi_rdf/MGI:5496879
• Twnk<tm1.1Lrsn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5496874
• Twnk<tm1.2Lrsn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5496876

表現型アノテーション

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

• abnormal respiratory electron transport chain_Twnk<tm1.1Lrsn>/Twnk<tm1.1Lrsn>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0010955IC57BL6FVBTwnktm11LrsnTwnktm11LrsnTgCkmmcre5Khn0TgCkmmcre5KhnTwnktm11Lrsn
• no abnormal phenotype detected_Tg(Twnk)1Lrsn/0
  http://metadb.riken.jp/0002169NSTgTwnk1Lrsn0TgTwnk1Lrsn
• embryonic lethality between somite formation and embryo turning, complete penetrance_Twnk<tm1.2Lrsn>/Twnk<tm1.2Lrsn>
  http://metadb.riken.jp/0011097IC57BL6Twnktm12LrsnTwnktm12LrsnTwnktm12Lrsn
• premature death_Twnk<tm1.1Lrsn>/Twnk<tm1.1Lrsn>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0002083IC57BL6FVBTwnktm11LrsnTwnktm11LrsnTgCkmmcre5Khn0TgCkmmcre5KhnTwnktm11Lrsn
• abnormal mitochondrion morphology_Twnk<tm1.1Lrsn>/Twnk<tm1.1Lrsn>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0006035IC57BL6FVBTwnktm11LrsnTwnktm11LrsnTgCkmmcre5Khn0TgCkmmcre5KhnTwnktm11Lrsn
• abnormal embryo development_Twnk<tm1.2Lrsn>/Twnk<tm1.2Lrsn>
  http://metadb.riken.jp/0001672IC57BL6Twnktm12LrsnTwnktm12LrsnTwnktm12Lrsn
• prenatal lethality, complete penetrance_Twnk<tm1.2Lrsn>/Twnk<tm1.2Lrsn>
  http://metadb.riken.jp/0011091IC57BL6Twnktm12LrsnTwnktm12LrsnTwnktm12Lrsn
• enlarged heart_Twnk<tm1.1Lrsn>/Twnk<tm1.1Lrsn>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0000274IC57BL6FVBTwnktm11LrsnTwnktm11LrsnTgCkmmcre5Khn0TgCkmmcre5KhnTwnktm11Lrsn

class

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

• Tg(Twnk)1Lrsn
  http://metadb.riken.jp/db/mgi_rdf/MGI:5496879
• Twnk<tm1.1Lrsn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5496874
• Twnk<tm1.2Lrsn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5496876