abnormal brain ependyma motile cilium physiology_Efhc1<tm1Kzy>/Efhc1<tm1Kzy>

http://metadb.riken.jp/0011069B6129P2Efhc1tm1KzyEfhc1tm1KzyEfhc1tm1KzyEfhc1tm1Kzy

abnormal brain ependyma motile cilium physiology_Efhc1<tm1Kzy>/Efhc1<tm1Kzy>

表現型アノテーション

MGI marker

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

• EF-hand domain (C-terminal) containing 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1919127

遺伝子型

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

• Efhc1<tm1Kzy>/Efhc1<tm1Kzy>

アレルシンボル

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

• Efhc1<tm1Kzy>

遺伝的背景

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

• B6.129P2-Efhc1<tm1Kzy>

MP annotation

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

• abnormal brain ependyma motile cilium physiology
  http://purl.obolibrary.org/obo/MP_0011069

文献

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

• Toshimitsu. Suzuki, et.al., Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility., Human molecular genetics, 2009, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/19147686