Lisenka E L M. Vissers, et.al., Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice., PLoS genetics, 2011, 7

http://rdf.ncbi.nlm.nih.gov/pubmed/21931569

Lisenka E L M. Vissers, et.al., Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice., PLoS genetics, 2011, 7

pubmed

表現型アノテーション

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

• asymmetric snout_Frem1<bat>/Frem1<+>
  http://metadb.riken.jp/0008862C57BL6JFrem1batFrem1batFrem1Frem1Frem1bat
• short snout_Frem1<bat>/Frem1<+>
  http://metadb.riken.jp/0000445C57BL6JFrem1batFrem1batFrem1Frem1Frem1bat
• abnormal metopic suture morphology_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0003842C57BL6JFrem1batFrem1batFrem1batFrem1bat
• premature suture closure_Frem1<bat>/Frem1<+>
  http://metadb.riken.jp/0000081C57BL6JFrem1batFrem1batFrem1Frem1Frem1bat
• abnormal craniofacial development_Nfib<tm1Rmg>/Nfib<tm1Rmg>
  http://metadb.riken.jp/0003935I129P2OlaHsdC57BL6Nfibtm1RmgNfibtm1RmgNfibtm1Rmg
• abnormal craniofacial morphology_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0000428C57BL6JFrem1batFrem1batFrem1batFrem1bat
• premature suture closure_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0000081C57BL6JFrem1batFrem1batFrem1batFrem1bat
• asymmetric snout_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0008862C57BL6JFrem1batFrem1batFrem1batFrem1bat
• premature suture closure_Frem1<tm1Ksek>/Frem1<tm1Ksek>
  http://metadb.riken.jp/0000081I129C57BL6Frem1tm1KsekFrem1tm1KsekFrem1tm1Ksek
• abnormal cranial suture morphology_Frem1<bat>/Frem1<+>
  http://metadb.riken.jp/0002835C57BL6JFrem1batFrem1batFrem1Frem1Frem1bat
• abnormal cranial suture morphology_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0002835C57BL6JFrem1batFrem1batFrem1batFrem1bat
• decreased fetal size_Nfib<tm1Rmg>/Nfib<tm1Rmg>
  http://metadb.riken.jp/0004200I129P2OlaHsdC57BL6Nfibtm1RmgNfibtm1RmgNfibtm1Rmg
• broad nasal bone_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0004472C57BL6JFrem1batFrem1batFrem1batFrem1bat
• short snout_Frem1<bat>/Frem1<bat>
  http://metadb.riken.jp/0000445C57BL6JFrem1batFrem1batFrem1batFrem1bat
• abnormal cranial suture morphology_Frem1<tm1Ksek>/Frem1<+>
  http://metadb.riken.jp/0002835I129C57BL6Frem1tm1KsekFrem1Frem1tm1KsekFrem1

表現型アノテーション

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

• premature cranial suture closure in RBRC06469
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1012633
• abnormal cranial suture morphology in RBRC06469
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1012638
• premature metopic suture closure in RBRC06469
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1020794