abnormal lysosome physiology_Smcr8<tm1(KOMP)Vlcg>/Smcr8<tm1(KOMP)Vlcg>

http://metadb.riken.jp/0003172I129S1SvImJC57BL6NTacSmcr8tm1KOMPVlcgSmcr8tm1KOMPVlcgSmcr8tm1KOMPVlcg

abnormal lysosome physiology_Smcr8<tm1(KOMP)Vlcg>/Smcr8<tm1(KOMP)Vlcg>

表現型アノテーション

MGI marker

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

• Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:2444720

遺伝子型

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

• Smcr8<tm1(KOMP)Vlcg>/Smcr8<tm1(KOMP)Vlcg>

アレルシンボル

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

• Smcr8<tm1(KOMP)Vlcg>

遺伝的背景

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

• involves: 129S1/SvImJ * C57BL/6NTac

MP annotation

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

• abnormal lysosome physiology
  http://purl.obolibrary.org/obo/MP_0003172

文献

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

• Mei. Yang, et.al., A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy., Science advances, 2016, 2
  http://rdf.ncbi.nlm.nih.gov/pubmed/27617292