abnormal skeletal muscle morphology_Col12a1<tm1Debi>/Col12a1<tm1Debi>

http://metadb.riken.jp/0000759NSCol12a1tm1DebiCol12a1tm1DebiCol12a1tm1Debi

abnormal skeletal muscle morphology_Col12a1<tm1Debi>/Col12a1<tm1Debi>

表現型アノテーション

MGI marker

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

• collagen, type XII, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88448

遺伝子型

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

• Col12a1<tm1Debi>/Col12a1<tm1Debi>

アレルシンボル

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

• Col12a1<tm1Debi>

遺伝的背景

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

• Not Specified

MP annotation

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

• abnormal skeletal muscle morphology
  http://purl.obolibrary.org/obo/MP_0000759

文献

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

• Yaqun. Zou, et.al., Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice., Human molecular genetics, 2014, 23
  http://rdf.ncbi.nlm.nih.gov/pubmed/24334604