progressive muscle weakness_Mtm1<tm1Itl>/Y

http://metadb.riken.jp/0000748B6CgMtm1tm1ItlMtm1tm1ItlYMtm1tm1Itl

progressive muscle weakness_Mtm1<tm1Itl>/Y

表現型アノテーション

MGI marker

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

• X-linked myotubular myopathy gene 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1099452

遺伝子型

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

• Mtm1<tm1Itl>/Y

アレルシンボル

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

• Mtm1<tm1Itl>

遺伝的背景

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

• B6.Cg-Mtm1<tm1Itl>

MP annotation

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

• progressive muscle weakness
  http://purl.obolibrary.org/obo/MP_0000748

文献

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

• Christopher R. Pierson, et.al., Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype., Human molecular genetics, 2012, 21
  http://rdf.ncbi.nlm.nih.gov/pubmed/22068590