abnormal autophagy_Hprt<tm2(CAG-Ppp1r3c)Jjg>/?,Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>

http://metadb.riken.jp/0008260IC57BL6NTacHprttm2CAGPpp1r3cJjgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgHprttm2CAGPpp1r3cJjg

abnormal autophagy_Hprt<tm2(CAG-Ppp1r3c)Jjg>/?,Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>

表現型アノテーション

MGI marker

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

• NHL repeat containing 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2145264
• hypoxanthine guanine phosphoribosyl transferase
  http://metadb.riken.jp/db/mgi_rdf/MGI:96217

遺伝子型

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

• Hprt<tm2(CAG-Ppp1r3c)Jjg>/?,Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>

アレルシンボル

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

• Nhlrc1<tm1(KOMP)Vlcg>|Hprt<tm2(CAG-Ppp1r3c)Jjg>

遺伝的背景

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

• involves: C57BL/6NTac

MP annotation

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

• abnormal autophagy
  http://purl.obolibrary.org/obo/MP_0008260

文献

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

• Jordi. Duran, et.al., Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease., Human molecular genetics, 2014, 23
  http://rdf.ncbi.nlm.nih.gov/pubmed/24452334