osteopetrosis_Mitf<Mi-Or>/Mitf<Mi-Or>

http://metadb.riken.jp/0000067I101RlC3HRlMitfMiOrMitfMiOrMitfMiOr

osteopetrosis_Mitf<Mi-Or>/Mitf<Mi-Or>

表現型アノテーション

MGI marker

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

• microphthalmia-associated transcription factor
  http://metadb.riken.jp/db/mgi_rdf/MGI:104554

遺伝子型

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

• Mitf<Mi-Or>/Mitf<Mi-Or>

アレルシンボル

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

• Mitf<Mi-Or>

遺伝的背景

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

• involves: 101/Rl * C3H/Rl

MP annotation

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

• osteopetrosis
  http://purl.obolibrary.org/obo/MP_0000067

文献

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

• A. Nii, et.al., Mild osteopetrosis in the microphthalmia-oak ridge mouse. A model for intermediate autosomal recessive osteopetrosis in humans., The American journal of pathology, 1995, 147
  http://rdf.ncbi.nlm.nih.gov/pubmed/7495310
• Eiríkur. Steingrimsson, et.al., Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development., Proceedings of the National Academy of Sciences of the United States of America, 2002, 99
  http://rdf.ncbi.nlm.nih.gov/pubmed/11930005