Ethan. Daley, et.al., Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model., Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2010, 25

http://rdf.ncbi.nlm.nih.gov/pubmed/19594296

Ethan. Daley, et.al., Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model., Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2010, 25

pubmed

allele

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

• Col1a2<tm1Mcbr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3805459

class

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

• Col1a2<tm1Mcbr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3805459

表現型アノテーション

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

• increased bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0000062C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone trabecula number_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010869FVBNJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone strength_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0004991FVBNJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• increased volumetric bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0013615FVBNJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased body weight_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0001262C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased compact bone thickness_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0000135BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased bone volume_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010876C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• increased bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0000062AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone volume_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010876BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased body weight_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0001262BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased compact bone thickness_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0000135AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased compact bone area_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010968C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone volume_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010876AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone trabecula number_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010869AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• increased volumetric bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0013615AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased compact bone thickness_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0000135C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• perinatal lethality, complete penetrance_Col1a2<tm1.1Mcbr>/Col1a2<tm1.1Mcbr>
  http://metadb.riken.jp/0011089B6129CgCol1a2tm11McbrCol1a2tm11McbrCol1a2tm11McbrCol1a2tm11Mcbr
• increased volumetric bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0013615BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased bone strength_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0004991BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased bone trabecula number_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010869C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• increased bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0000062BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased body weight_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0001262AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• increased bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0000062FVBNJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone trabecula number_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010869BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased bone mineral content_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010124AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone strength_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0004991C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone mineral content_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010124C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• no abnormal phenotype detected_Col1a2<tm1Mcbr>/Col1a2<tm1Mcbr>
  http://metadb.riken.jp/0002169I129SvEvC57BL6Col1a2tm1McbrCol1a2tm1McbrCol1a2tm1Mcbr
• decreased body weight_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0001262FVBNJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone mineral content_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010124FVBNJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• increased volumetric bone mineral density_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0013615C3HHeJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased compact bone area_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010968BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased bone strength_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0004991AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased bone mineral content_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010124BALBcByJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2Col1a2tm11Mcbr
• decreased bone volume_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010876FVBNJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2
• decreased compact bone area_Col1a2<tm1.1Mcbr>/Col1a2<+>
  http://metadb.riken.jp/0010968AJxB6129Col1a2tm11McbrF1Col1a2tm11McbrCol1a2Col1a2tm11McbrCol1a2