Ankit. Garg, et.al., KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy., The Journal of clinical investigation, 2014, 124

http://rdf.ncbi.nlm.nih.gov/pubmed/24960163

Ankit. Garg, et.al., KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy., The Journal of clinical investigation, 2014, 124

pubmed

表現型アノテーション

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

• abnormal muscle physiology_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002106C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• impaired skeletal muscle contractility_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002841C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• muscle weakness_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0000747C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• abnormal sarcomere morphology_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0004090C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• myopathy_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0000751C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• small heart_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0002188C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• postnatal growth retardation_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001732C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• abnormal Z lines_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0004091C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• postnatal lethality, complete penetrance_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0011085C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• decreased heart rate_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0005333C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• decreased body size_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0001265C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg
• abnormal skeletal muscle morphology_Klhl40<tm1(KOMP)Vlcg>/Klhl40<tm1(KOMP)Vlcg>
  http://metadb.riken.jp/0000759C57BL6Klhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcgKlhl40tm1KOMPVlcg