LOCUS       NM_008781               3868 bp    mRNA    linear   ROD 25-FEB-2025
DEFINITION  Mus musculus paired box 3 (Pax3), transcript variant 1, mRNA.
ACCESSION   NM_008781 XM_912523
VERSION     NM_008781.4
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 3868)
  AUTHORS   Chen,Y., Li,H., Wang,J., Yang,S., Su,Z., Wang,W., Rao,C. and Hou,L.
  TITLE     The Ednrb-Aim2-AKT axis regulates neural crest-derived melanoblast
            proliferation during early development
  JOURNAL   Development 151 (22) (2024)
   PUBMED   39555938
REFERENCE   2  (bases 1 to 3868)
  AUTHORS   Dias,A.P., Rehmani,T., Salih,M. and Tuana,B.
  TITLE     Tail-anchored membrane protein SLMAP3 is essential for targeting
            centrosomal proteins to the nuclear envelope in skeletal myogenesis
  JOURNAL   Open Biol 14 (10), 240094 (2024)
   PUBMED   39378988
REFERENCE   3  (bases 1 to 3868)
  AUTHORS   Dumoulin,A., Wilson,N.H., Tucker,K.L. and Stoeckli,E.T.
  TITLE     A cell-autonomous role for primary cilium-mediated signaling in
            long-range commissural axon guidance
  JOURNAL   Development 151 (17) (2024)
   PUBMED   39157903
REFERENCE   4  (bases 1 to 3868)
  AUTHORS   Dumas,C.E., Rousset,C., De Bono,C., Cortes,C., Jullian,E.,
            Lescroart,F., Zaffran,S., Adachi,N. and Kelly,R.G.
  TITLE     Retinoic acid signalling regulates branchiomeric neck muscle
            development at the head/trunk interface
  JOURNAL   Development 151 (16) (2024)
   PUBMED   39082789
REFERENCE   5  (bases 1 to 3868)
  AUTHORS   Vong,K.I., Lee,S., Au,K.S., Crowley,T.B., Capra,V., Martino,J.,
            Haller,M., Araujo,C., Machado,H.R., George,R., Gerding,B.,
            James,K.N., Stanley,V., Jiang,N., Alu,K., Meave,N., Nidhiry,A.S.,
            Jiwani,F., Tang,I., Nisal,A., Jhamb,I., Patel,A., Patel,A.,
            McEvoy-Venneri,J., Barrows,C., Shen,C., Ha,Y.J., Howarth,R.,
            Strain,M., Ashley-Koch,A.E., Azam,M., Mumtaz,S., Bot,G.M.,
            Finnell,R.H., Kibar,Z., Marwan,A.I., Melikishvili,G., Meltzer,H.S.,
            Mutchinick,O.M., Stevenson,D.A., Mroczkowski,H.J., Ostrander,B.,
            Schindewolf,E., Moldenhauer,J., Zackai,E.H., Emanuel,B.S.,
            Garcia-Minaur,S., Nowakowska,B.A., Stevenson,R.E., Zaki,M.S.,
            Northrup,H., McNamara,H.K., Aldinger,K.A., Phelps,I.G., Deng,M.,
            Glass,I.A., Morrow,B., McDonald-McGinn,D.M., Sanna-Cherchi,S.,
            Lamb,D.J. and Gleeson,J.G.
  CONSRTM   Spina Bifida Sequencing Consortiumdouble dagger
  TITLE     Risk of meningomyelocele mediated by the common 22q11.2 deletion
  JOURNAL   Science 384 (6695), 584-590 (2024)
   PUBMED   38696583
REFERENCE   6  (bases 1 to 3868)
  AUTHORS   Franz,T.
  TITLE     Neural tube defects without neural crest defects in splotch mice
  JOURNAL   Teratology 46 (6), 599-604 (1992)
   PUBMED   1290160
REFERENCE   7  (bases 1 to 3868)
  AUTHORS   Vidal,S.M., Epstein,D.J., Malo,D., Weith,A., Vekemans,M. and
            Gros,P.
  TITLE     Identification and mapping of six microdissected genomic DNA probes
            to the proximal region of mouse chromosome 1
  JOURNAL   Genomics 14 (1), 32-37 (1992)
   PUBMED   1358796
REFERENCE   8  (bases 1 to 3868)
  AUTHORS   Steel,K.P. and Smith,R.J.
  TITLE     Normal hearing in Splotch (Sp/+), the mouse homologue of
            Waardenburg syndrome type 1
  JOURNAL   Nat Genet 2 (1), 75-79 (1992)
   PUBMED   1303254
REFERENCE   9  (bases 1 to 3868)
  AUTHORS   Tassabehji,M., Read,A.P., Newton,V.E., Harris,R., Balling,R.,
            Gruss,P. and Strachan,T.
  TITLE     Waardenburg's syndrome patients have mutations in the human
            homologue of the Pax-3 paired box gene
  JOURNAL   Nature 355 (6361), 635-636 (1992)
   PUBMED   1347148
REFERENCE   10 (bases 1 to 3868)
  AUTHORS   Wilson,D.B. and Finta,L.A.
  TITLE     Gap junctional vesicles in the neural tube of the splotch (Sp)
            mutant mouse
  JOURNAL   Teratology 19 (3), 337-340 (1979)
   PUBMED   473084
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK045018.1, AK148354.1, AK147919.1, AK157760.1 and AC118213.8.
            
            On Apr 18, 2009 this sequence version replaced NM_008781.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript but encodes the shorter isoform (a).
            
            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 :: AK045018.1, AK148354.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164142 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-805               AK045018.1         2-806
            806-2085            AK148354.1         787-2066
            2086-2474           AK147919.1         1791-2179
            2475-3172           AK157760.1         1685-2382
            3173-3173           AC118213.8         127590-127590       c
            3174-3868           AK157760.1         2384-3078
FEATURES             Location/Qualifiers
     source          1..3868
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 39.79 cM"
     gene            1..3868
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /note="paired box 3"
                     /db_xref="GeneID:18505"
                     /db_xref="MGI:MGI:97487"
     exon            1..472
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     CDS             388..1827
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /note="isoform a is encoded by transcript variant 1;
                     paired box protein Pax-3; paired box gene 3; PAX3/FKHR
                     fusion"
                     /codon_start=1
                     /product="paired box protein Pax-3 isoform a"
                     /protein_id="NP_032807.3"
                     /db_xref="CCDS:CCDS15082.1"
                     /db_xref="GeneID:18505"
                     /db_xref="MGI:MGI:97487"
                     /translation="MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGV
                     FINGRPLPNHIRHKIVEMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIG
                     GSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRS
                     KFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRK
                     QRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKLTEARVQVWFSNRRARWRK
                     QAGANQLMAFNHLIPGGFPPTAMPTLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPL
                     PPSTVHQSTIPSNADSSSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQV
                     MGLLTNHGGVPHQPQTDYALSPLTGGLEPTTTVSASCSQRLEHMKNVDSLPTSQPYCP
                     PTYSTAGYSMDPVTGYQYGQYGQSKPWTF"
     exon            473..708
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     exon            709..838
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     exon            839..973
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1179
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1345
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1560
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..3868
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2170..2175
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /note="hexamer: AATAAA"
     polyA_site      2189
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /note="major polyA site"
     regulatory      2408..2413
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /note="hexamer: AATAAA"
     polyA_site      2437
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
     regulatory      3843..3848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /note="hexamer: AATAAA"
     polyA_site      3865
                     /gene="Pax3"
                     /gene_synonym="Pax-3; Sp; Splchl2; splotch"
                     /note="major polyA site"
ORIGIN      
        1 gctccctagt ccggatccct gcactcggtg tcacgacggg aggagacttg ggacgtgttc
       61 ctgcctcgtc accaccctcc ctcacccgat cttcgcggtg cagtgagcac ctttgccagt
      121 agccccagct gaggggccga tctgctagac tcgcaccaaa ctcgtccgcc ctgggcttgg
      181 gatcctgcac tcaagggact cctctggagc ctgtggactt ggatctatta gcgcccccct
      241 ccccgcgccc cgcctccctc tctggccttt tttgggggag gagctctccg agatccggag
      301 agttcccgag ggtcacccgc cgcactgtgc tcgctttttc gtctcgcctt cacctggata
      361 taatttgcga gcgaagctgc ccccaggatg accacgctgg ccggcgctgt gcccaggatg
      421 atgcggcccg gcccggggca gaattaccca cgcagcggct tcccgctgga agtgtccacc
      481 cctcttggcc agggccgagt caaccagctc ggaggagtat ttatcaacgg caggcctctg
      541 cccaaccata tccgccacaa gatagtggag atggcccacc atggcattcg gccttgcgtc
      601 atttctcgcc agcttcgcgt gtcccatggt tgcgtctcta agatcctgtg caggtaccag
      661 gagacaggct ccatccgacc tggtgccatc ggcggcagca aacccaagca ggtgacaacg
      721 cctgacgtgg agaagaaaat tgaggaatac aaaagagaga acccgggcat gtttagctgg
      781 gaaatcagag acaaattgct caaggacgct gtctgtgatc ggaacactgt gccctcagtg
      841 agttctatca gccgcatcct gaggagtaaa tttggaaaag gagaagagga ggaggcggat
      901 ctagaaagga aggaagcaga agaaagcgag aaaaaggcta aacacagcat cgatggcatc
      961 ctgagtgagc gagcctctgc acctcagtca gatgaaggct ccgatattga ctctgaacct
     1021 gatttaccgc tgaagaggaa gcagcgcagg agcagaacca ccttcacggc agagcagctg
     1081 gaggaactgg agcgggcttt cgagagaacc cactacccag acatttacac cagggaggag
     1141 ctggcccaga gggcgaagct taccgaggcc cgagtgcagg tctggtttag caaccgccgt
     1201 gcaagatgga ggaaacaagc tggagccaat caactgatgg ctttcaacca tctcattccg
     1261 gggggattcc ctcccaccgc catgccgacc ctgccaacat accagctgtc ggagacctct
     1321 taccagccca cgtctattcc acaagccgtg tcagatccca gtagcaccgt ccacagacct
     1381 cagccgcttc ctccgagcac tgtacaccaa agcactattc cttcgaacgc agacagcagc
     1441 tctgcctact gcctccccag caccaggcat ggattttcaa gctatacaga cagctttgtg
     1501 cctccatcgg ggccctccaa ccccatgaac cccaccatcg gcaatggcct ttcacctcag
     1561 gtaatgggac ttctgaccaa ccacggtggg gtaccgcacc agcctcagac cgactatgct
     1621 ctctcccctc tcactggggg cctggaaccc acgaccacgg tgtcagccag ctgcagtcag
     1681 agactggaac atatgaagaa tgtggacagt ctgcccacat ctcagcccta ttgtcccccc
     1741 acctatagca ccgcaggcta cagtatggac cctgtcacag gctaccagta tgggcagtat
     1801 ggacaaagta agccttggac gttctagggg gtagttcctc ctggaaggga gagagatcac
     1861 ctcttgcttg agaacgggga actggaggca tgtttaagcc tttcatccca gtatcatttt
     1921 tttgtggcaa agacagctga ttgctacagc acaggctccc ttgtgtaatt atttgcttaa
     1981 ctgatgtcaa taacatcttg cagttattaa ttgctgggac ggaaaaccgg attgtcagta
     2041 ggtaaaacac agaggttggc caaaatgaaa taacctctag cattagaaac acatgttctt
     2101 aatgaggtca gcgccaggat catatgggga taagcccagg acacagagtt gtgtcaaact
     2161 tgtctcagga ataaaaatat tagtctcgat cctttgatac cgtggtatta aatatgacat
     2221 tgtcagcctg tagctgatct tgcccctaac tgtgaattgt cccagcatga cctaaaaagc
     2281 tgcgtgtgtt tccttacagg tgcctttcat tatctcaagc cagatattgc ataagtgaac
     2341 tgtccacttg gagccctgtt tccggcctcc acagactaga catgaagaat cttctcagaa
     2401 acaaaacaat aaaaaaaatt taaaaacaaa caaaaaataa atgaaaaaaa attcagcttt
     2461 tgggggaggt ggagacaaaa gagattgatt ttctttctcc agtagttgct ttcagattct
     2521 ttgaacatat tggacaaaag gcaggggaga caaggaagac ccagagctct aaaatgcacc
     2581 atttttaaga cagtgatgta actggctaca tatcaaaatg gccccaaatc tttgttgctg
     2641 atcaaagaag ctaaaacatt ccgtgtgtgt gtgtgtgtgt gtgtgtgtgt gagagagaga
     2701 gagagagaga gagagagaga gagagattga ttttcacggg gtggtttgag taagcagaat
     2761 gttcccatat attgtagttg aattcctgaa agttaacagg tttgatgtct aaggctgacc
     2821 aagtttatga cattcacact gcttatgtag tgaattggga atggagaaat ccttgatttt
     2881 gacacactgg aaaccgatat gaaaaccaac accaccattg tatagggcac tagactagat
     2941 gtgaaggatc tccccagtaa attattacca taccttcatt tgtaacctag ttatcaaccg
     3001 atgtccctga catgtcttgt aaaaagatgt gggataatga gaaaaaagtg tgttatctgc
     3061 tgtggggata gatggatgtc atttacttcc caagtcacat tgatttggag gccagttggt
     3121 gggggggggg gaagggtatg atgtagagga agtgacaccc atcacatatc tgcttctcag
     3181 cgtgcaatac tgtgtacctc acagatgctt tggcaatggc caaggtgata gaaatgaaat
     3241 cagaactata tttttgcagg tgtttttatt tttgcagccc ataactcatc gtagtagagt
     3301 gcagtgatgt ttgctcgttg ccaaacaact cacatcctgc ttgttccttt tgttcagaga
     3361 ccatgtctga gaatcaagct ctctacagag atggtgttta cattcgtctc ttttctacaa
     3421 aaggcagggc tagaacagaa atgtccacgt ggctctcatg tacttttaaa ttatacaacg
     3481 atacccaata ttaaaggata tagggaacag gtttacatac attcatgtgg tgacatttag
     3541 gatgtcaata aatctgtgtt ttgaaatgtt aagagaaaga tgaaggtggg cggtgctgtt
     3601 atttatttct ttctattctt ggaaccatga atgaggtagg cacaaataca ttccctttag
     3661 atttaagaac aatgaggtag tgtgttagca ggactagaca tagaactgag ttattttata
     3721 cgttgggcag ggtgatggaa caggagacat agtatctttg tgttgcagcc tcaaccaaca
     3781 atgatgtgtt gtaaaaatgt ctttcatgta aaaagtgcag taaatattta ctatttataa
     3841 tgaataaaca gttaatgaaa atgtgccc
//
