mandible hypoplasia_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>

http://metadb.riken.jp/0000460B6129P2Tmem67tm1DgenTmem67tm1DgenTmem67tm1DgenTmem67tm1Dgen

mandible hypoplasia_Tmem67<tm1Dgen>/Tmem67<tm1Dgen>

表現型アノテーション

MGI marker

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

• transmembrane protein 67
  http://metadb.riken.jp/db/mgi_rdf/MGI:1923928

遺伝子型

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

• Tmem67<tm1Dgen>/Tmem67<tm1Dgen>

アレルシンボル

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

• Tmem67<tm1Dgen>

遺伝的背景

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

• B6.129P2-Tmem67<tm1Dgen>

MP annotation

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

• mandible hypoplasia
  http://purl.obolibrary.org/obo/MP_0000460

文献

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

• Zakia A. Abdelhamed, et.al., Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23283079