abnormal hair follicle melanocyte morphology_Mitf<tm5.1Arnh>/Mitf<tm5.1Arnh>,Kit<tm1Alf>/Kit<+>

http://metadb.riken.jp/0004381I129S2SvPas129S4SvJae129S6SvEvTacC57BL6NMitftm51ArnhMitftm51ArnhKittm1AlfKitKittm1AlfKitMitftm51Arnh

abnormal hair follicle melanocyte morphology_Mitf<tm5.1Arnh>/Mitf<tm5.1Arnh>,Kit<tm1Alf>/Kit<+>

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
• KIT proto-oncogene receptor tyrosine kinase
  http://metadb.riken.jp/db/mgi_rdf/MGI:96677

遺伝子型

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

• Mitf<tm5.1Arnh>/Mitf<tm5.1Arnh>,Kit<tm1Alf>/Kit<+>

アレルシンボル

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

• Kit<tm1Alf>|Kit<+>|Mitf<tm5.1Arnh>

遺伝的背景

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

• involves: 129S2/SvPas * 129S4/SvJae * 129S6/SvEvTac * C57BL/6N

MP annotation

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

• abnormal hair follicle melanocyte morphology
  http://purl.obolibrary.org/obo/MP_0004381

文献

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

• Julien. Debbache, et.al., In vivo role of alternative splicing and serine phosphorylation of the microphthalmia-associated transcription factor., Genetics, 2012, 191
  http://rdf.ncbi.nlm.nih.gov/pubmed/22367038