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

Malte. Spielmann, et.al., Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus., American journal of human genetics, 2012, 91

pubmed

allele

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

• Col1a1<tm1(hs1473-PITX1)Smun>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5529077

class

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

• Col1a1<tm1(hs1473-PITX1)Smun>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5529077

表現型アノテーション

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

• abnormal humerus morphology_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>
  http://metadb.riken.jp/0005296I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun
• abnormal digit morphology_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>
  http://metadb.riken.jp/0002110I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun
• abnormal forelimb morphology_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>
  http://metadb.riken.jp/0000550I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun
• abnormal forelimb zeugopod morphology_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>
  http://metadb.riken.jp/0003855I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun
• syndactyly_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>
  http://metadb.riken.jp/0000564I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun
• fused carpal bones_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>
  http://metadb.riken.jp/0008915I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun
• oligodactyly_Col1a1<tm1(hs1473-PITX1)Smun>/Col1a1<+>
  http://metadb.riken.jp/0000565I129S4SvJaeC57BL6Col1a1tm1hs1473PITX1SmunCol1a1Col1a1Col1a1tm1hs1473PITX1Smun