prenatal lethality, incomplete penetrance_Mbnl1<tm1Sws>/Mbnl1<+>,Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>

http://metadb.riken.jp/0011101I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1Mbnl2tm11SwsMbnl2tm11SwsMbnl1Mbnl1tm1SwsMbnl2tm11Sws

prenatal lethality, incomplete penetrance_Mbnl1<tm1Sws>/Mbnl1<+>,Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>

表現型アノテーション

MGI marker

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

• muscleblind like splicing factor 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:2145597
• muscleblind like splicing factor 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1928482

遺伝子型

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

• Mbnl1<tm1Sws>/Mbnl1<+>,Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>

アレルシンボル

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

• Mbnl1<+>|Mbnl1<tm1Sws>|Mbnl2<tm1.1Sws>

遺伝的背景

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

• involves: 129S1/Sv * 129S1/SvImJ * C57BL

MP annotation

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

• partial prenatal lethality
  http://purl.obolibrary.org/obo/MP_0011101

文献

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

• Kuang-Yung. Lee, et.al., Compound loss of muscleblind-like function in myotonic dystrophy., EMBO molecular medicine, 2013, 5
  http://rdf.ncbi.nlm.nih.gov/pubmed/24293317