Olga. Criado, et.al., Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy., Human molecular genetics, 2012, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/22186026

Olga. Criado, et.al., Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy., Human molecular genetics, 2012, 21

pubmed

表現型アノテーション

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

• Lafora bodies in RBRC02715
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1012394

allele

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

• Nhlrc1<tm1.1Geno>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5312924
• Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5312925

表現型アノテーション

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

• lipofuscinosis_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0008842I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• myoclonus_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0000243I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• abnormal autophagy_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0008260I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• abnormal object recognition memory_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0001458I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• abnormal spike wave discharge_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0008840I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• Lafora bodies_Epm2a<tm1Kzy>/Epm2a<tm1Kzy>
  http://metadb.riken.jp/0014063I129P2OlaHsdEpm2atm1KzyEpm2atm1KzyEpm2atm1Kzy
• limb grasping_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0001513I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• abnormal motor capabilities/coordination/movement_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0002066I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• Lafora bodies_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0014063I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno
• abnormal brain interneuron morphology_Nhlrc1<tm1.2Geno>/Nhlrc1<tm1.2Geno>
  http://metadb.riken.jp/0004101I129S2SvPasC57BL6JNhlrc1tm12GenoNhlrc1tm12GenoNhlrc1tm12Geno