progressive muscle weakness_Mtm1<tm1.1Jman>/Y

http://metadb.riken.jp/0000748I129T1SvC57BL6Mtm1tm11JmanYMtm1tm11Jman

progressive muscle weakness_Mtm1<tm1.1Jman>/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<tm1.1Jman>/Y

アレルシンボル

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

• Mtm1<tm1.1Jman>

遺伝的背景

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

• involves: 129T1/Sv * C57BL/6

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
• Anna. Buj-Bello, et.al., The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice., Proceedings of the National Academy of Sciences of the United States of America, 2002, 99
  http://rdf.ncbi.nlm.nih.gov/pubmed/12391329