thrombocytopenia_Pot1b<tm1.1Schg>/Pot1b<tm1.1Schg>,Terc<tm1Rdp>/Terc<+>

http://metadb.riken.jp/0003179I129Sv129S6SvEvTacC57BL6SJLPot1btm11SchgPot1btm11SchgTerctm1RdpTercPot1btm11SchgTerctm1RdpTerc

thrombocytopenia_Pot1b<tm1.1Schg>/Pot1b<tm1.1Schg>,Terc<tm1Rdp>/Terc<+>

表現型アノテーション

MGI marker

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

• protection of telomeres 1B
  http://metadb.riken.jp/db/mgi_rdf/MGI:1920086
• telomerase RNA component
  http://metadb.riken.jp/db/mgi_rdf/MGI:109558

遺伝子型

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

• Pot1b<tm1.1Schg>/Pot1b<tm1.1Schg>,Terc<tm1Rdp>/Terc<+>

アレルシンボル

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

• Pot1b<tm1.1Schg>|Terc<tm1Rdp>|Terc<+>

遺伝的背景

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

• involves: 129/Sv * 129S6/SvEvTac * C57BL/6 * SJL

MP annotation

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

• decreased platelet cell number
  http://purl.obolibrary.org/obo/MP_0003179

文献

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

• Hua. He, et.al., Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita., Molecular and cellular biology, 2009, 29
  http://rdf.ncbi.nlm.nih.gov/pubmed/18936156