abnormal amino acid metabolism_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>

http://metadb.riken.jp/0013242I129S5SvEvBrdBckdkGtOST79912LexBckdkGtOST79912LexBckdkGtOST79912Lex

abnormal amino acid metabolism_Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>

表現型アノテーション

MGI marker

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

• branched chain ketoacid dehydrogenase kinase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1276121

遺伝子型

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

• Bckdk<Gt(OST79912)Lex>/Bckdk<Gt(OST79912)Lex>

アレルシンボル

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

• Bckdk<Gt(OST79912)Lex>

遺伝的背景

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

• involves: 129S5/SvEvBrd

MP annotation

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

• abnormal amino acid metabolism
  http://purl.obolibrary.org/obo/MP_0013242

文献

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

• Dora C. Tărlungeanu, et.al., Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder., Cell, 2016, 167
  http://rdf.ncbi.nlm.nih.gov/pubmed/27912058