abnormal cerebellar granule cell morphology_Afg3l2<Emv66>/Afg3l2<+>

http://metadb.riken.jp/0004098IMEV2TyAfg3l2Emv66Afg3l2Afg3l2Emv66Afg3l2

abnormal cerebellar granule cell morphology_Afg3l2<Emv66>/Afg3l2<+>

表現型アノテーション

MGI marker

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

• AFG3-like AAA ATPase 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1916847

遺伝子型

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

• Afg3l2<Emv66>/Afg3l2<+>

アレルシンボル

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

• Afg3l2<Emv66>|Afg3l2<+>

遺伝的背景

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

• involves: MEV/2Ty

MP annotation

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

• abnormal cerebellar granule cell morphology
  http://purl.obolibrary.org/obo/MP_0004098

文献

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

• Francesca. Maltecca, et.al., Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009, 29
  http://rdf.ncbi.nlm.nih.gov/pubmed/19625515