abnormal craniofacial morphology_Frem1<bat>/Frem1<bat>

http://metadb.riken.jp/0000428C57BL6JFrem1batFrem1batFrem1batFrem1bat

abnormal craniofacial morphology_Frem1<bat>/Frem1<bat>

表現型アノテーション

MGI marker

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

• Fras1 related extracellular matrix protein 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2670972

遺伝子型

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

• Frem1<bat>/Frem1<bat>

アレルシンボル

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

• Frem1<bat>

遺伝的背景

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

• C57BL/6J-Frem1<bat>

MP annotation

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

• abnormal craniofacial morphology
  http://purl.obolibrary.org/obo/MP_0000428

文献

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

• Anne M. Slavotinek, et.al., Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1., Journal of medical genetics, 2011, 48
  http://rdf.ncbi.nlm.nih.gov/pubmed/21507892
• 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