perinatal lethality, incomplete penetrance_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>

http://metadb.riken.jp/0011090I129SSvEv129S4SvJaeC57BL6Pkd1tm1GggPkd1Pkhd1tm11GggPkhd1tm11GggPkd1Pkd1tm1GggPkhd1tm11Ggg

perinatal lethality, incomplete penetrance_Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>

表現型アノテーション

MGI marker

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

• polycystic kidney disease 1 homolog
  http://metadb.riken.jp/db/mgi_rdf/MGI:97603
• polycystic kidney and hepatic disease 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2155808

遺伝子型

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

• Pkd1<tm1Ggg>/Pkd1<+>,Pkhd1<tm1.1Ggg>/Pkhd1<tm1.1Ggg>

アレルシンボル

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

• Pkd1<+>|Pkd1<tm1Ggg>|Pkhd1<tm1.1Ggg>

遺伝的背景

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

• involves: 129S/SvEv * 129S4/SvJae * C57BL/6

MP annotation

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

• partial perinatal lethality
  http://purl.obolibrary.org/obo/MP_0011090

文献

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

• Miguel A. Garcia-Gonzalez, et.al., Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17575307