abnormal neural tube closure_Mthfd1<tm1.1Rzn>/Mthfd1<tm1.1Rzn>

http://metadb.riken.jp/0003720I129S1Sv129X1SvJC57BL6NMthfd1tm11RznMthfd1tm11RznMthfd1tm11Rzn

abnormal neural tube closure_Mthfd1<tm1.1Rzn>/Mthfd1<tm1.1Rzn>

表現型アノテーション

MGI marker

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

• methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1342005

遺伝子型

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

• Mthfd1<tm1.1Rzn>/Mthfd1<tm1.1Rzn>

アレルシンボル

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

• Mthfd1<tm1.1Rzn>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

MP annotation

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

• abnormal neural tube closure
  http://purl.obolibrary.org/obo/MP_0003720

文献

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

• K E. Christensen, et.al., A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23704330