syndactyly_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>

http://metadb.riken.jp/0000564I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun

syndactyly_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>

表現型アノテーション

MGI marker

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

• collagen, type I, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88467

遺伝子型

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

• Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>

アレルシンボル

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

• Col1a1<+>|Col1a1<tm1(hs1473-PITX1)Smun>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6

MP annotation

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

• syndactyly
  http://purl.obolibrary.org/obo/MP_0000564

文献

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

• Malte. Spielmann, et.al., Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus., American journal of human genetics, 2012, 91
  http://rdf.ncbi.nlm.nih.gov/pubmed/23022097