muscular atrophy_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>

http://metadb.riken.jp/0002269IC57BL6JJclC57BL6NCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsiCox6a1tm1KOMPWtsi

muscular atrophy_Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>

表現型アノテーション

MGI marker

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

• cytochrome c oxidase subunit VIa polypeptide 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:103099

遺伝子型

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

• Cox6a1<tm1(KOMP)Wtsi>/Cox6a1<tm1(KOMP)Wtsi>

アレルシンボル

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

• Cox6a1<tm1(KOMP)Wtsi>

遺伝的背景

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

• involves: C57BL/6JJcl * C57BL/6N

MP annotation

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

• muscular atrophy
  http://purl.obolibrary.org/obo/MP_0002269

文献

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

• Gen. Tamiya, et.al., A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease., American journal of human genetics, 2014, 95
  http://rdf.ncbi.nlm.nih.gov/pubmed/25152455