Dan. Wang, et.al., Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation., Molecular genetics and metabolism, 2010, 99

http://rdf.ncbi.nlm.nih.gov/pubmed/19751987

Dan. Wang, et.al., Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation., Molecular genetics and metabolism, 2010, 99

pubmed

allele

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

• Idua<tm1.1Kmke>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4415188

class

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

• Idua<tm1.1Kmke>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4415188

表現型アノテーション

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

• premature death_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0002083B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• abnormal zygomatic bone morphology_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0005270B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• increased urine glycosaminoglycan level_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0011473B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• short femur_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0003109B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• decreased percent body fat/body weight_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0005459B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• increased bone mineral density_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0000062B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• abnormal lysosome morphology_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0005058B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• abnormal foam cell morphology_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0009840B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• increased diameter of femur_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0008158B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke
• abnormal snout morphology_Idua<tm1.1Kmke>/Idua<tm1.1Kmke>
  http://metadb.riken.jp/0000443B6129Iduatm11KmkeIduatm11KmkeIduatm11KmkeIduatm11Kmke