B6-Pah/enu2 B6-Pah/enu2 Developed by Akihiro Kume, Jichi Medical University. The original ENU mutant mice BTBR background were generated by Alexandra Shedlovsky and David McDonald, University of Wisconsin. The mutant mice were backcrossed to C57BL/6 over 26 times. Pah (phenylalanine hydroxylase) 遺伝子のENUミュータントマウス。第7エクソンの点突然変異 (T835Cミスセンス変異) によりPah活性を失っている、通常の食餌の給仕により、高フェニルアラニン血症を呈し (20 mg/dL以上) 、体毛色淡色化や認知機能の低下を示す。古典的フェニルケトン尿症 (OMIM:261600) のモデルマウス。 C (3-6 months) 自治医科大学・久米晃啓先生。BTBR背景（University of Wisconsin・Alexandra Shedlovsky、David McDonaldら）のものより、C57BL/6マウスへ戻し交配された（N26世代以上）。 In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested. Neuroreport, 23, 30-34 (2012). B6.BTBR-Pah<enu2> B6.BTBR-Pah<enu2> Heterozygote x Wild-type [C57BL/6JJcl] Heterozygote x Wild-type [C57BL/6JJcl] 条件を付加する。<br>研究成果の公表にあたって寄託者の指定する文献を引用する。Neuroreport, 23, 30-34 (2012). <a href='https://brc.riken.jp/mus/pcr06319'>Genotyping protocol -PCR-</a> false RBRC06319 Kume, Akihiro C（3〜6か月） 久米　晃啓 Pah (phenylalanine hydroxylase) gene ENU mutant mice. A point mutation (T835C) in exon 7 of the Pah introduced an amino acid substitution Phe263Ser. Homozygous mutant mice exhibit hyperphenylalaninemia on a normal diet. Model for Phenylketonuria (OMIM: 261600). Metabolism Research Necessary documents for ordering:<ol><li>Order form (<A HREF="https://mus.brc.riken.jp/ja/wp-content/uploads/form/form_4.docx">Japanese</A> / <A HREF="https://mus.brc.riken.jp/en/wp-content/uploads/form/form_b.docx">English</A>)</li><li>Category I MTA: MTA for distribution with RIKEN BRC (<A HREF="https://mus.brc.riken.jp/ja/wp-content/uploads/form/form_5.docx">Japanese</A> / <A HREF="https://mus.brc.riken.jp/en/wp-content/uploads/form/form_c.docx">English</A>)</li></ol>