LOCUS       NM_008777               2152 bp    mRNA    linear   ROD 31-JUL-2024
DEFINITION  Mus musculus phenylalanine hydroxylase (Pah), mRNA.
ACCESSION   NM_008777
VERSION     NM_008777.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2152)
  AUTHORS   Martinez-Pizarro,A., Pico,S., Lopez-Marquez,A., Rodriguez-Lopez,C.,
            Montalvo,E., Alvarez,M., Castro,M., Ramon-Maiques,S., Perez,B.,
            Lucas,J.J., Richard,E. and Desviat,L.R.
  TITLE     PAH deficient pathology in humanized c.1066-11G>A phenylketonuria
            mice
  JOURNAL   Hum Mol Genet 33 (12), 1074-1089 (2024)
   PUBMED   38520741
REFERENCE   2  (bases 1 to 2152)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 2152)
  AUTHORS   Brooks,D.L., Whittaker,M.N., Qu,P., Musunuru,K.,
            Ahrens-Nicklas,R.C. and Wang,X.
  TITLE     Efficient in vivo prime editing corrects the most frequent
            phenylketonuria variant, associated with high unmet medical need
  JOURNAL   Am J Hum Genet 110 (12), 2003-2014 (2023)
   PUBMED   37924808
REFERENCE   4  (bases 1 to 2152)
  AUTHORS   Brooks,D.L., Carrasco,M.J., Qu,P., Peranteau,W.H.,
            Ahrens-Nicklas,R.C., Musunuru,K., Alameh,M.G. and Wang,X.
  TITLE     Rapid and definitive treatment of phenylketonuria in
            variant-humanized mice with corrective editing
  JOURNAL   Nat Commun 14 (1), 3451 (2023)
   PUBMED   37301931
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2152)
  AUTHORS   Manek,R., Zhang,Y.V., Berthelette,P., Hossain,M., Cornell,C.S.,
            Gans,J., Anarat-Cappillino,G., Geller,S., Jackson,R., Yu,D.,
            Singh,K., Ryan,S., Bangari,D.S., Xu,E.Y. and Kyostio-Moore,S.R.M.
  TITLE     Blood phenylalanine reduction reverses gene expression changes
            observed in a mouse model of phenylketonuria
  JOURNAL   Sci Rep 11 (1), 22886 (2021)
   PUBMED   34819582
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2152)
  AUTHORS   MacLaren,D.C., O'Connor,C.M., Xia,Y.R., Mehrabian,M., Klisak,I.,
            Sparkes,R.S., Clarke,S. and Lusis,A.J.
  TITLE     The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1)
            maps to human chromosome 6q22.3-6q24 and the syntenic region of
            mouse chromosome 10
  JOURNAL   Genomics 14 (4), 852-856 (1992)
   PUBMED   1478665
REFERENCE   7  (bases 1 to 2152)
  AUTHORS   Shimizu,A., Sakai,Y., Ohno,K., Masaki,S., Kuwano,R., Takahashi,Y.,
            Miyashita,N. and Watanabe,T.
  TITLE     A molecular genetic linkage map of mouse chromosome 10, including
            the Myb, S100b, Pah, Sl, and Ifg genes
  JOURNAL   Biochem Genet 30 (9-10), 529-535 (1992)
   PUBMED   1359872
REFERENCE   8  (bases 1 to 2152)
  AUTHORS   Wilkie,T.M., Gilbert,D.J., Olsen,A.S., Chen,X.N., Amatruda,T.T.,
            Korenberg,J.R., Trask,B.J., de Jong,P., Reed,R.R., Simon,M.I. et
            al.
  TITLE     Evolution of the mammalian G protein alpha subunit multigene family
  JOURNAL   Nat Genet 1 (2), 85-91 (1992)
   PUBMED   1302014
  REMARK    Review article
REFERENCE   9  (bases 1 to 2152)
  AUTHORS   Liu,T.J., Kay,M.A., Darlington,G.J. and Woo,S.L.
  TITLE     Reconstitution of enzymatic activity in hepatocytes of
            phenylalanine hydroxylase-deficient mice
  JOURNAL   Somat Cell Mol Genet 18 (1), 89-96 (1992)
   PUBMED   1312261
REFERENCE   10 (bases 1 to 2152)
  AUTHORS   Simon-Chazottes,D., Matsubara,S., Miyauchi,T., Muramatsu,T. and
            Guenet,J.L.
  TITLE     Chromosomal localization of two cell surface-associated molecules
            of potential importance in development: midkine (Mdk) and basigin
            (Bsg)
  JOURNAL   Mamm Genome 2 (4), 269-271 (1992)
   PUBMED   1347477
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY074411.1, AK149519.1, AK145839.1 and AA968324.1.
            
            On Apr 1, 2008 this sequence version replaced NM_008777.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC013458.1, AK145839.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849377
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-128               BY074411.1         2-129
            129-140             BY074411.1         131-142
            141-1166            AK149519.1         7-1032
            1167-2135           AK145839.1         1032-2000
            2136-2152           AA968324.1         1-17                c
FEATURES             Location/Qualifiers
     source          1..2152
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 43.64 cM"
     gene            1..2152
                     /gene="Pah"
                     /note="phenylalanine hydroxylase"
                     /db_xref="GeneID:18478"
                     /db_xref="MGI:MGI:97473"
     exon            1..282
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            283..390
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            391..574
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            575..663
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            664..731
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            732..928
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1064
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1134
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1191
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1287
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1421
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            1422..1537
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..2143
                     /gene="Pah"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2123..2128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pah"
                     /note="hexamer: AATAAA"
     polyA_site      2143
                     /gene="Pah"
                     /note="major polyA site"
ORIGIN      
        1 agtccaggac tggagttggg tatggactgt tcatgtctat ccactgctac gtcagggcaa
       61 cacccactga gagtgacctt gtagactgca gtgggagaca cccttcaaaa cctctcctct
      121 cctgtcctga gagccaggtt aaaaccatca gccccgcatc ctgagtgcaa acttttccta
      181 accctgctgc taagctagac acctcactta ctgagagcca gcatggcagc tgttgtcctg
      241 gagaacggag tcctgagcag aaaactctca gactttgggc aggaaacaag ttacatcgaa
      301 gacaactcca atcaaaatgg tgctgtatct ctgatattct cactcaaaga ggaagttggt
      361 gccctggcca aggtcctgcg cttatttgag gagaatgaga tcaacctgac acacattgaa
      421 tccagacctt cccgtttaaa caaagatgag tatgagtttt tcacctatct ggataagcgt
      481 agcaagcccg tcctgggcag catcatcaag agcctgagga acgacattgg tgccactgtc
      541 catgagcttt cccgagacaa ggaaaagaac acagtgccct ggttcccaag gaccattcag
      601 gagctggaca gattcgccaa tcagattctc agctatggag ccgaactgga tgcagaccac
      661 ccaggcttta aagatcctgt gtaccgggcg agacgaaagc agtttgctga cattgcctac
      721 aactaccgcc atgggcagcc cattcctcgg gtggaataca cagaggagga gaggaagacc
      781 tggggaacgg tgttcaggac tctgaaggcc ttgtataaaa cacatgcctg ctacgagcac
      841 aaccacatct tccctcttct ggaaaagtac tgcggtttcc gtgaagacaa catcccgcag
      901 ctggaagatg tttctcagtt tctgcagact tgtactggtt tccgcctccg tcctgttgct
      961 ggcttactgt cgtctcgaga tttcttgggt ggcctggcct tccgagtctt ccactgcaca
     1021 cagtacatta ggcatggatc taagcccatg tacacacctg aacctgatat ctgtcatgaa
     1081 ctcttgggac atgtgccctt gttttcagat agaagctttg cccagttttc tcaggaaatt
     1141 gggcttgcat cgctgggggc acctgatgag tacattgaga aactggccac aatttactgg
     1201 tttactgtgg agtttgggct ttgcaaggaa ggagattcta taaaggcata tggtgctggg
     1261 ctcttgtcat cctttggaga attacagtac tgtttatcag acaagccaaa gctcctgccc
     1321 ctggagctag agaagacagc ctgccaggag tatactgtca cagagttcca gcctctgtac
     1381 tatgtggccg agagtttcaa tgatgccaag gagaaagtga ggacttttgc tgccacaatc
     1441 ccccggccct tctccgttcg ctatgacccc tacactcaaa gggttgaggt cctggacaat
     1501 actcagcagt tgaagatttt agctgactcc attaatagtg aggttggaat cctttgccat
     1561 gccctgcaga aaataaagtc atgaacagaa agtgacgtca tagacagaac ttaggaggtc
     1621 aaccaaaaaa atctgctgat agaagtatag taactgcttc ttttccctga agaagaaaag
     1681 ttttatttgc aatgtcagct tttaatatat tttcctaaca tagtggagga tcaccaaata
     1741 aatcaatttc tctgaaatga aagtatatta aaacccatca gtggtagatc cttcagagtc
     1801 acatttgatt tagatatctc agaccttcaa tttggtttaa aatgtaattt ctcagttctc
     1861 atcaacattc atcaaatttg ggactcatat catttgggct ctgtctgttc atttttaacc
     1921 tctcaggtaa gctctgatgg aatacatatt gcttagtgta aaatgtgaga ctgtcatcgg
     1981 gaacaaatta ttccattcag tacagattgt aatctacaaa gcttagtttc tacattcatt
     2041 cattatggct ctgagaacta ctttgttagc ctgcttacat aaatgtcctc tgatctaaga
     2101 ctctattaag atagttacaa gcaataaagc attatataaa acaaaaaaaa aa
//
