abnormal cerebellum morphology_Nefl<tm2.1Liem>/Nefl<+>

http://metadb.riken.jp/0000849B6CgNefltm21LiemNefltm21LiemNeflNefltm21LiemNefl

abnormal cerebellum morphology_Nefl<tm2.1Liem>/Nefl<+>

表現型アノテーション

MGI marker

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

• neurofilament, light polypeptide
  http://metadb.riken.jp/db/mgi_rdf/MGI:97313

遺伝子型

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

• Nefl<tm2.1Liem>/Nefl<+>

アレルシンボル

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

• Nefl<tm2.1Liem>|Nefl<+>

遺伝的背景

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

• B6.Cg-Nefl<tm2.1Liem>

MP annotation

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

• abnormal cerebellum morphology
  http://purl.obolibrary.org/obo/MP_0000849

文献

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

• Adijat A. Adebola, et.al., Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/25552649