muscle weakness_Cmah<tm1Avrk>/Cmah<tm1Avrk>,Dmd<mdx>/Dmd<mdx>

http://metadb.riken.jp/0000747I129X1SvJC57BL10ScSnCmahtm1AvrkCmahtm1AvrkDmdmdxDmdmdxDmdmdxCmahtm1Avrk

muscle weakness_Cmah<tm1Avrk>/Cmah<tm1Avrk>,Dmd<mdx>/Dmd<mdx>

表現型アノテーション

MGI marker

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

• cytidine monophospho-N-acetylneuraminic acid hydroxylase
  http://metadb.riken.jp/db/mgi_rdf/MGI:103227
• dystrophin, muscular dystrophy
  http://metadb.riken.jp/db/mgi_rdf/MGI:94909

遺伝子型

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

• Cmah<tm1Avrk>/Cmah<tm1Avrk>,Dmd<mdx>/Dmd<mdx>

アレルシンボル

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

• Dmd<mdx>|Cmah<tm1Avrk>

遺伝的背景

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

• involves: 129X1/SvJ * C57BL/10ScSn

MP annotation

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

• muscle weakness
  http://purl.obolibrary.org/obo/MP_0000747

文献

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

• Kumaran. Chandrasekharan, et.al., A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy., Science translational medicine, 2010, 2
  http://rdf.ncbi.nlm.nih.gov/pubmed/20668298