LOCUS       NM_001305940            2780 bp    mRNA    linear   ROD 18-JUN-2024
DEFINITION  Mus musculus aristaless related homeobox (Arx), transcript variant
            2, mRNA.
ACCESSION   NM_001305940 XM_006527751
VERSION     NM_001305940.1
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 2780)
  AUTHORS   Cheffer,A., Garcia-Miralles,M., Maier,E., Akol,I., Franz,H.,
            Srinivasan,V.S.V. and Vogel,T.
  TITLE     DOT1L deletion impairs the development of cortical
            parvalbumin-expressing interneurons
  JOURNAL   Cereb Cortex 33 (19), 10272-10285 (2023)
   PUBMED   37566909
REFERENCE   2  (bases 1 to 2780)
  AUTHORS   Tixi,W., Maldonado,M., Chang,Y.T., Chiu,A., Yeung,W., Parveen,N.,
            Nelson,M.S., Hart,R., Wang,S., Hsu,W.J., Fueger,P., Kopp,J.L.,
            Huising,M.O., Dhawan,S. and Shih,H.P.
  TITLE     Coordination between ECM and cell-cell adhesion regulates the
            development of islet aggregation, architecture, and functional
            maturation
  JOURNAL   Elife 12, e90006 (2023)
   PUBMED   37610090
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2780)
  AUTHORS   Qu,F., Li,W., Xu,J., Zhang,R., Ke,J., Ren,X., Meng,X., Qin,L.,
            Zhang,J., Lu,F., Zhou,X., Luo,X., Zhang,Z., Wang,M., Wu,G., Pei,D.,
            Chen,J., Cui,G., Suo,S. and Peng,G.
  TITLE     Three-dimensional molecular architecture of mouse organogenesis
  JOURNAL   Nat Commun 14 (1), 4599 (2023)
   PUBMED   37524711
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2780)
  AUTHORS   Abarinov,V., Levine,J.A., Churchill,A.J., Hopwood,B., Deiter,C.S.,
            Guney,M.A., Wells,K.L., Schrunk,J.M., Guo,Y., Hammelman,J.,
            Gifford,D.K., Magnuson,M.A., Wichterle,H. and Sussel,L.
  TITLE     Major beta cell-specific functions of NKX2.2 are mediated via the
            NK2-specific domain
  JOURNAL   Genes Dev 37 (11-12), 490-504 (2023)
   PUBMED   37364986
REFERENCE   5  (bases 1 to 2780)
  AUTHORS   Knowles,S.J., Stafford,A.M., Zaman,T., Angara,K., Williams,M.R.,
            Newbern,J.M. and Vogt,D.
  TITLE     Distinct hyperactive RAS/MAPK alleles converge on common GABAergic
            interneuron core programs
  JOURNAL   Development 150 (10) (2023)
   PUBMED   37254876
REFERENCE   6  (bases 1 to 2780)
  AUTHORS   Stromme,P., Mangelsdorf,M.E., Shaw,M.A., Lower,K.M., Lewis,S.M.,
            Bruyere,H., Lutcherath,V., Gedeon,A.K., Wallace,R.H.,
            Scheffer,I.E., Turner,G., Partington,M., Frints,S.G., Fryns,J.P.,
            Sutherland,G.R., Mulley,J.C. and Gecz,J.
  TITLE     Mutations in the human ortholog of Aristaless cause X-linked mental
            retardation and epilepsy
  JOURNAL   Nat Genet 30 (4), 441-445 (2002)
   PUBMED   11889467
REFERENCE   7  (bases 1 to 2780)
  AUTHORS   Blair,H.J., Reed,V., Gormally,E., Wilson,J.B., Novak,J.,
            McInnes,R.R., Phillips,S.J., Taylor,B.A. and Boyd,Y.
  TITLE     Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and
            253949) from the human X chromosome short arm with respect to
            evolutionary breakpoints on the mouse X chromosome
  JOURNAL   Mamm Genome 11 (8), 710-712 (2000)
   PUBMED   10920247
REFERENCE   8  (bases 1 to 2780)
  AUTHORS   Meijlink,F., Beverdam,A., Brouwer,A., Oosterveen,T.C. and
            Berge,D.T.
  TITLE     Vertebrate aristaless-related genes
  JOURNAL   Int J Dev Biol 43 (7), 651-663 (1999)
   PUBMED   10668975
  REMARK    Review article
REFERENCE   9  (bases 1 to 2780)
  AUTHORS   Kitamura,K., Miura,H., Yanazawa,M., Miyashita,T. and Kato,K.
  TITLE     Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2,
            Dlx1 and Arx during zona limitans intrathalamica and embryonic
            ventral lateral geniculate nuclear formation
  JOURNAL   Mech Dev 67 (1), 83-96 (1997)
   PUBMED   9347917
REFERENCE   10 (bases 1 to 2780)
  AUTHORS   Miura,H., Yanazawa,M., Kato,K. and Kitamura,K.
  TITLE     Expression of a novel aristaless related homeobox gene 'Arx' in the
            vertebrate telencephalon, diencephalon and floor plate
  JOURNAL   Mech Dev 65 (1-2), 99-109 (1997)
   PUBMED   9256348
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CJ045476.1, CJ049350.1 and
            BC052033.1.
            
            On Apr 10, 2015 this sequence version replaced XM_006527751.2.
            
            Summary: This gene encodes a transcription factor that plays an
            important role in the development of forebrain. Male mice lacking
            this gene have smaller brains, olfactory bulbs and testes, and die
            within half a day after birth. Mice lacking this gene specifically
            in ganglionic eminence-derived neurons, including cortical
            interneurons, develop seizures. Mutations in this gene have been
            demonstrated to cause mouse phenotypes resembling human X-linked
            lissencephaly and cognitive disability with epilepsy. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Apr 2015].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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 :: AB006103.2, SRR11927938.4112675.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 CJ045476.1         1-3
            4-53                CJ049350.1         3-52
            54-2780             BC052033.1         33-2759
FEATURES             Location/Qualifiers
     source          1..2780
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 41.05 cM"
     gene            1..2780
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /note="aristaless related homeobox"
                     /db_xref="GeneID:11878"
                     /db_xref="MGI:MGI:1097716"
     exon            1..53
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /inference="alignment:Splign:2.1.0"
     exon            54..299
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1798
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /codon_start=1
                     /product="homeobox protein ARX"
                     /protein_id="NP_001292869.1"
                     /db_xref="CCDS:CCDS30271.1"
                     /db_xref="GeneID:11878"
                     /db_xref="MGI:MGI:1097716"
                     /translation="MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLL
                     GAAQSLPAPLASRADQEKAMQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAA
                     AAAAAAAAAAAATATGTAGPRGEVPPPPPPAARPGERQDSAGAVAAAAAAAAWDTLKI
                     SQAPQVSISRSKSYRENGAPFVPPPPALDELSGPGGVAHPEERLSAASGPGSAPAAGG
                     GTGAEDDEEELLEDEEDEEEEEELLEDDDEELLEDDARALLKEPRRCSVATTGTVAAA
                     AAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYR
                     TTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAG
                     AQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPP
                     GSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTP
                     AVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC"
     exon            300..1182
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1228
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1557
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /inference="alignment:Splign:2.1.0"
     exon            1558..2752
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2638..2643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /note="hexamer: GATAAA"
     polyA_site      2658
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /note="major polyA site"
     regulatory      2735..2740
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /note="hexamer: AATATA"
     polyA_site      2752
                     /gene="Arx"
                     /gene_synonym="Arx1"
                     /note="major polyA site"
ORIGIN      
        1 actacacttg ttaccgcttg tcctgagcgc ggagaggacg agctccggct gaggagagag
       61 gagcagaggt ccgctctctg agcccaagga aaaagcacca gccatgagca atcagtacca
      121 ggaagagggc tgctctgaga ggccggagtg caagagtaaa tctccaactt tgctctcctc
      181 ctactgcatc gacagcatcc tgggccggag aagcccatgc aaaatgaggc ttctgggagc
      241 cgcgcagagc ttgcctgccc cgctggccag ccgcgctgac caggaaaaag ccatgcaagg
      301 ctcccccaag agcagcagcg ccccgttcga ggctgagctg cacctgccac ccaagctgcg
      361 gcgcctctac ggcccgggcg ggggccgcct cctccagggc gcggcggcgg cggctgcagc
      421 ggcggcggcg gccgcagcgg cggccacggc cactggcacc gcaggtcccc gtggagaggt
      481 tcctccaccg ccaccaccag ctgcacggcc aggggagcgt caggacagcg caggggccgt
      541 ggctgccgcc gctgccgccg ctgcctggga cacgctcaag atcagccagg cgccgcaggt
      601 gagcatcagt cgtagcaagt cgtaccgcga gaacggggcg cccttcgtgc ccccgccgcc
      661 agccctggac gagctgagtg gcccgggggg cgtcgcgcac cccgaggagc gcctcagcgc
      721 ggccagcgga cccggcagtg cccccgcggc gggtggtggc acgggcgccg aggacgacga
      781 ggaggagctg ttggaggatg aggaagatga agaggaggaa gaggagctgc tggaggacga
      841 cgacgaggag ctgctggagg acgatgcccg cgcgctgctc aaggagcccc ggcgctgctc
      901 ggtggccacc accggcacag tggccgccgc cgccgccgct gctgccgccg ccgtggccac
      961 cgagggcggg gagctgtcgc ccaaggaaga gctgttgctg cacccggagg acgccgaggg
     1021 caaggatggt gaggacagcg tgtgcctgtc ggccggcagc gactcggagg aggggctgct
     1081 gaagcgcaaa cagaggcgct accgcaccac gttcaccagt taccagctgg aggaactgga
     1141 gcgggctttc cagaagacgc actaccctga cgtcttcacc agggaggagc tggccatgag
     1201 gctggacctg acagaggccc gagtccaggt gtggttccag aaccgtcggg ccaagtggcg
     1261 caagcgggag aaggctggcg cacagaccca ccccccgggg ctgccctttc cagggccgct
     1321 ctcggctacc caccctctca gcccctacct ggacgccagc ccctttcccc cgcatcaccc
     1381 tgcgcttgat tcggcctgga ccgccgcggc ggcggcggct gcagctgcct tcccgagcct
     1441 acctccgccc ccaggctctg ctagcctgcc acccagcggg gcgccgctgg gtctgagcac
     1501 ttttctagga gcagcggtgt tccgccaccc agccttcatc agcccagcat ttggcaggct
     1561 cttttccact atggcccccc tgaccagcgc gtcgactgcg gctgcgctcc tgagacagcc
     1621 cacacccgcg gtggagggcg cagtggcctc gggcgcgctg gccgacccgg ccaccgccgc
     1681 ggcagacaga cgcgcgtcaa gcatagccgc gctgaggctc aaggctaagg agcacgccgc
     1741 gcagctcacg cagctcaaca tcctgccggg caccagcacg gggaaggagg tgtgctaaag
     1801 gctgccctcc gcccttgcgc ccctagggcg ttccccgaaa ggtcacctca ctcagcacca
     1861 ctcaagacca aatggaaaca gaggaccagc tcactcccaa gaaggcacag acagagcgca
     1921 gccgccttcg cagcagcttg gaagcggaca aggcagttct tggcgctaaa ggatgtggca
     1981 cctcctccac tggctgtcca cctgcccttg tccctgtccc tgtccctacc cctgccactg
     2041 ccaatgtcac tccaactcaa agtccactct cccgttttta ccttactgaa aataacccgg
     2101 gaggggttct ccccaatatg cttagtattg aagtttaaaa attaaaagcc caaccttctc
     2161 ttcctccgga taccccactt agcttttctt ttgaatagca ttttggcgct ctatgttgat
     2221 ttaagcgcgg cccggctaaa cagatgccag ggccagggaa gcgaatgcga atctgtaaga
     2281 tagctaacag tgcacttaaa ggaaaggggc gtctcgttct tgttctcttc tttatcatac
     2341 atcaaccaag gtttttatat caaaccaaag ggaaatactc tgctagaata tggactgttg
     2401 aagtcaccaa actgtgatta ttgattctgt acataccatt gttattaaaa aaaaaaagaa
     2461 cagagctttg tatatttgaa atgttataac gcaattgcac tcagcgtggt atggtaaaag
     2521 tttgtcctcc tgtagattct tactgtgttg tagatacggt agggttccta gacaaatatt
     2581 tatgtactca agccctttat ttaacttatt aactgtagag gcttcggaaa ccttcaagat
     2641 aaaggcaatg gtacagtact tttgtgtaat gtgtaattgt tatcactttt ccttgctatc
     2701 tagtggagaa gtgtcacgct caaaataaaa aaaaaatata tgtttaacaa aaaaaaaaaa
     2761 aaaaaaaaaa aaaaaaaaaa
//
