{"id":6612,"date":"2006-12-01T11:25:41","date_gmt":"2006-12-01T02:25:41","guid":{"rendered":"http:\/\/mus.brc.riken.jp:7301\/?page_id=6612"},"modified":"2022-07-08T13:32:13","modified_gmt":"2022-07-08T04:32:13","slug":"dec_2006_mm","status":"publish","type":"page","link":"http:\/\/mus.brc.riken.jp\/ja\/mouse_of_month\/dec_2006_mm","title":{"rendered":"Mitfmi-bw<\/sup> mutant mouse"},"content":{"rendered":"\n\n\n
\"RIKEN<\/td>\nDecember 2006<\/span>
\n Mouse of the Month<\/span><\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n
\n
\n Mitfmi-bw<\/sup>\u00a0mutant mouse
\n A model for Waardenburg syndrome type 2<\/span><\/p>\n
\n BRC No. 01262_C3.Cg-Mitfmi-bw<\/sup><\/a>
\n BRC No. 01896_B6;C3-Mitfmi-bw<\/sup><\/a><\/h5>\n

\n Targeted mutation : Mitf, Chr. 6
\n Gene Symbol : Mitf
\n Research Application : Dermatology, Neurobiology
\n \"mn0612_0101\"
\n Mitfmi-bw<\/sup>\u00a0mutant mouse (homozygote)<\/b><\/p>\n<\/tr>\n<\/tbody>\n<\/table>\n

\n<\/div>\n
\u00a0\u00a0Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities in human. Approximately 20% of WS2 cases are associated with mutations in the gene encoding the microphthalmia-associated transcription factor (Mitf). Mitf plays a critical role in the development of melanocytes, mast cells, osteoclasts and pigmented epithelium. The Mitfmi-bw<\/sup>\u00a0allele is one of the oldest known among white spotting mutations, and homozygous mice for the Mitfmi-bw<\/sup>\u00a0mutation display a white coat with black eyes (figure). In this allele, a L1 retrotransposable element was inserted into intron 3. This strain is useful as an animal model for Waardenburg syndrome type 2 (WS2).\n<\/div>\n

 <\/p>\n\n\n\n\n
Depositor<\/td>\n:<\/td>\n\u00a0Dr. Hiroaki Yamamoto
\n(Tohoku University)<\/a><\/td>\n<\/tr>\n
Reference<\/td>\n:<\/td>\n\u00a0Yajima I, Sato S, Kimura T, Yasumoto K, Shibahara S, Goding CR, Yamamoto H.
\nAn L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.
\nHum. Mol. Genet.<\/i>\u00a01999; 8(8):1431-1441<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

December 2006 Mouse of the Month Mitfmi-bw\u00a0mutant mouse A model for Waardenburg syndrome type 2 BRC No. 01262_C3.Cg-Mitfmi-bw BRC No. 01896_B6;C3-Mitfmi-bw Targeted mutation : Mitf, Chr. 6 Gene Symbol […]<\/p>\n","protected":false},"author":8,"featured_media":0,"parent":198,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"","_seopress_robots_breadcrumbs":"","_seopress_robots_freeze_modified_date":"","_seopress_robots_custom_modified_date":"","_seopress_robots_canonical":"","_seopress_social_fb_title":"","_seopress_social_fb_desc":"","_seopress_social_fb_img":"","_seopress_social_fb_img_attachment_id":0,"_seopress_social_fb_img_width":0,"_seopress_social_fb_img_height":0,"_seopress_social_twitter_title":"","_seopress_social_twitter_desc":"","_seopress_social_twitter_img":"","_seopress_social_twitter_img_attachment_id":0,"_seopress_social_twitter_img_width":0,"_seopress_social_twitter_img_height":0,"_seopress_redirections_value":"","_seopress_redirections_enabled":"","_seopress_redirections_enabled_regex":"","_seopress_redirections_logged_status":"both","_seopress_redirections_param":"","_seopress_redirections_type":301,"_seopress_analysis_target_kw":"","footnotes":"","_wp_rev_ctl_limit":""},"class_list":["post-6612","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/6612","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/comments?post=6612"}],"version-history":[{"count":11,"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/6612\/revisions"}],"predecessor-version":[{"id":19109,"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/6612\/revisions\/19109"}],"up":[{"embeddable":true,"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/pages\/198"}],"wp:attachment":[{"href":"http:\/\/mus.brc.riken.jp\/ja\/wp-json\/wp\/v2\/media?parent=6612"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}