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

Jordi. Duran, et.al., Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease., Human molecular genetics, 2014, 23

pubmed

allele

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

• Hprt<tm2(CAG-Ppp1r3c)Jjg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5618922

class

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

• Hprt<tm2(CAG-Ppp1r3c)Jjg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5618922

表現型アノテーション

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

• abnormal neuron morphology_Hprt<tm1(CAG-Gys1*)Jjg>/?,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0002882I129P2OlaHsdHprttm1CAGGys1JjgTgNescre1KagHprttm1CAGGys1JjgTgNescre1Kag
• neuron degeneration_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0003224IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcg
• abnormal autophagy_Hprt<tm2(CAG-Ppp1r3c)Jjg>/?
  http://metadb.riken.jp/0008260NSHprttm2CAGPpp1r3cJjgHprttm2CAGPpp1r3cJjg
• abnormal seizure response to electrical stimulation_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001650IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcg
• abnormal seizure response to pharmacological agent_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0000950IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcg
• abnormal seizure response to electrical stimulation_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<+>,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0001650IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1TgNescre1KagTgNescre1KagNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1
• abnormal neuron morphology_Hprt<tm2(CAG-Ppp1r3c)Jjg>/?
  http://metadb.riken.jp/0002882NSHprttm2CAGPpp1r3cJjgHprttm2CAGPpp1r3cJjg
• abnormal autophagy_Hprt<tm2(CAG-Ppp1r3c)Jjg>/?,Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0008260IC57BL6NTacHprttm2CAGPpp1r3cJjgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgHprttm2CAGPpp1r3cJjg
• neuron degeneration_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<+>,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0003224IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1TgNescre1KagTgNescre1KagNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1
• abnormal neuron morphology_Hprt<tm2(CAG-Ppp1r3c)Jjg>/?,Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002882IC57BL6NTacHprttm2CAGPpp1r3cJjgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgHprttm2CAGPpp1r3cJjg
• abnormal seizure response to electrical stimulation_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<tm1a(EUCOMM)Wtsi>,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0001650IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1tm1aEUCOMMWtsiTgNescre1KagTgNescre1KagGys1tm1aEUCOMMWtsiNhlrc1tm1KOMPVlcg
• abnormal seizure response to pharmacological agent_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<tm1a(EUCOMM)Wtsi>,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0000950IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1tm1aEUCOMMWtsiTgNescre1KagTgNescre1KagGys1tm1aEUCOMMWtsiNhlrc1tm1KOMPVlcg
• abnormal autophagy_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<+>,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0008260IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1TgNescre1KagTgNescre1KagNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1
• abnormal seizure response to pharmacological agent_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<+>,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0000950IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1TgNescre1KagTgNescre1KagNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1
• abnormal autophagy_Hprt<tm1(CAG-Gys1*)Jjg>/?,Tg(Nes-cre)1Kag/?
  http://metadb.riken.jp/0008260I129P2OlaHsdHprttm1CAGGys1JjgTgNescre1KagHprttm1CAGGys1JjgTgNescre1Kag
• abnormal autophagy_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0008260IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcg