LOCUS       NM_028140               3158 bp    mRNA    linear   ROD 08-FEB-2024
DEFINITION  Mus musculus major facilitator superfamily domain containing 8
            (Mfsd8), mRNA.
ACCESSION   NM_028140
VERSION     NM_028140.5
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 3158)
  AUTHORS   Chen,X., Dong,T., Hu,Y., Shaffo,F.C., Belur,N.R., Mazzulli,J.R. and
            Gray,S.J.
  TITLE     AAV9/MFSD8 gene therapy is effective in preclinical models of
            neuronal ceroid lipofuscinosis type 7 disease
  JOURNAL   J Clin Invest 132 (5) (2022)
   PUBMED   35025759
REFERENCE   2  (bases 1 to 3158)
  AUTHORS   Lopez-Fabuel,I., Garcia-Macia,M., Buondelmonte,C., Burmistrova,O.,
            Bonora,N., Alonso-Batan,P., Morant-Ferrando,B.,
            Vicente-Gutierrez,C., Jimenez-Blasco,D., Quintana-Cabrera,R.,
            Fernandez,E., Llop,J., Ramos-Cabrer,P., Sharaireh,A.,
            Guevara-Ferrer,M., Fitzpatrick,L., Thompton,C.D., McKay,T.R.,
            Storch,S., Medina,D.L., Mole,S.E., Fedichev,P.O., Almeida,A. and
            Bolanos,J.P.
  TITLE     Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7
            neuronal ceroid lipofuscinosis
  JOURNAL   Nat Commun 13 (1), 536 (2022)
   PUBMED   35087090
  REMARK    GeneRIF: Aberrant upregulation of the glycolytic enzyme PFKFB3 in
            CLN7 neuronal ceroid lipofuscinosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3158)
  AUTHORS   Wang,Y., Zeng,W., Lin,B., Yao,Y., Li,C., Hu,W., Wu,H., Huang,J.,
            Zhang,M., Xue,T., Ren,D., Qu,L. and Cang,C.
  TITLE     CLN7 is an organellar chloride channel regulating lysosomal
            function
  JOURNAL   Sci Adv 7 (51), eabj9608 (2021)
   PUBMED   34910516
REFERENCE   4  (bases 1 to 3158)
  AUTHORS   Bagchi,S., Perland,E., Hosseini,K., Lundgren,J., Al-Walai,N.,
            Kheder,S. and Fredriksson,R.
  TITLE     Probable role for major facilitator superfamily domain containing 6
            (MFSD6) in the brain during variable energy consumption
  JOURNAL   Int J Neurosci 130 (5), 476-489 (2020)
   PUBMED   31906755
  REMARK    GeneRIF: Probable role for major facilitator superfamily domain
            containing 6 (MFSD6) in the brain during variable energy
            consumption.
REFERENCE   5  (bases 1 to 3158)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3158)
  AUTHORS   Jankowiak,W., Brandenstein,L., Dulz,S., Hagel,C., Storch,S. and
            Bartsch,U.
  TITLE     Retinal Degeneration in Mice Deficient in the Lysosomal Membrane
            Protein CLN7
  JOURNAL   Invest Ophthalmol Vis Sci 57 (11), 4989-4998 (2016)
   PUBMED   27654426
REFERENCE   7  (bases 1 to 3158)
  AUTHORS   Kruszewski,K., Lullmann-Rauch,R., Dierks,T., Bartsch,U. and
            Damme,M.
  TITLE     Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient
            Mice
  JOURNAL   Invest Ophthalmol Vis Sci 57 (3), 1120-1131 (2016)
   PUBMED   26975023
REFERENCE   8  (bases 1 to 3158)
  AUTHORS   Brandenstein,L., Schweizer,M., Sedlacik,J., Fiehler,J. and
            Storch,S.
  TITLE     Lysosomal dysfunction and impaired autophagy in a novel mouse model
            deficient for the lysosomal membrane protein Cln7
  JOURNAL   Hum Mol Genet 25 (4), 777-791 (2016)
   PUBMED   26681805
  REMARK    GeneRIF: We have disrupted the Cln7/Mfsd8 gene in mice by targeted
            deletion of exon 2 generating a novel knockout (KO) mouse model for
            CLN7 disease, which recapitulates key features of human CLN7
            disease pathology.
REFERENCE   9  (bases 1 to 3158)
  AUTHORS   Damme,M., Brandenstein,L., Fehr,S., Jankowiak,W., Bartsch,U.,
            Schweizer,M., Hermans-Borgmeyer,I. and Storch,S.
  TITLE     Gene disruption of Mfsd8 in mice provides the first animal model
            for CLN7 disease
  JOURNAL   Neurobiol Dis 65, 12-24 (2014)
   PUBMED   24423645
REFERENCE   10 (bases 1 to 3158)
  AUTHORS   Sharifi,A., Kousi,M., Sagne,C., Bellenchi,G.C., Morel,L.,
            Darmon,M., Hulkova,H., Ruivo,R., Debacker,C., El Mestikawy,S.,
            Elleder,M., Lehesjoki,A.E., Jalanko,A., Gasnier,B. and Kyttala,A.
  TITLE     Expression and lysosomal targeting of CLN7, a major facilitator
            superfamily transporter associated with variant late-infantile
            neuronal ceroid lipofuscinosis
  JOURNAL   Hum Mol Genet 19 (22), 4497-4514 (2010)
   PUBMED   20826447
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC160757.3.
            
            [WARNING] On Apr 10, 2024 this sequence was replaced by
            NM_028140.6.
            
            On Apr 12, 2018 this sequence version replaced NM_028140.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK077957.1, AK035291.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##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
            1-214               AC160757.3         97790-98003
            215-306             AC160757.3         105139-105230
            307-350             AC160757.3         107512-107555
            351-591             AC160757.3         109235-109475
            592-705             AC160757.3         110587-110700
            706-850             AC160757.3         112487-112631
            851-906             AC160757.3         113965-114020
            907-1015            AC160757.3         117662-117770
            1016-1150           AC160757.3         120683-120817
            1151-1254           AC160757.3         122346-122449
            1255-1502           AC160757.3         122534-122781
            1503-3158           AC160757.3         124924-126579
FEATURES             Location/Qualifiers
     source          1..3158
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 19.55 cM"
     gene            1..3158
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /note="major facilitator superfamily domain containing 8"
                     /db_xref="GeneID:72175"
                     /db_xref="MGI:MGI:1919425"
     exon            1..214
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            215..306
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            307..350
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            351..591
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            592..705
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            706..850
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            851..906
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1015
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1150
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            1151..1254
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1502
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..3158
                     /gene="Mfsd8"
                     /gene_synonym="2810423E13Rik; Cln7"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 cacacttcac atttcccttc ggctgccggt ccgcttccgg cctcacggcg cgcaagcgca
       61 ctcgtaggag tgttttgaca gctccgggcc tggagaagga gcaggtgtcg cgagagtggg
      121 cagcgcgccg cctagcgaga gctggaatta tggcgaacct gggaagtgag gccgagcggg
      181 agcccctctt gggcccggga tcacccggaa gcagagaatg gagcgagata gaaacccaag
      241 agcattacaa gagtagatgg aagtctgtga ggattctcta ccttaccatg ttcctcagca
      301 gtgtgggttt ttctattgtg ataatgtcca tctggccata tcttcaaaag attgatcaga
      361 cagctgatgc aagttttttg ggctgggtta ttgcttcata tagtcttggc caaatggtag
      421 cttcacctct atttggctta tggtctaatt ataggccgag aaaagaacct cttatcgtct
      481 ccatctctat ttcggtggca gccaactgcc tatatgcgta tgtccacgtg ccagctgctc
      541 ataataaata ctacatgttg attgctcgtg gattggtggg atttggagca ggaaatgttg
      601 ccgttgtccg atcatacatt gctggtgcta cttcccttca ggaaagaaca aatgccatgg
      661 ctaatacaag cacatgccaa gccctgggct ttattctcgg tccagttttt cagacttgct
      721 ttgcactcat tggagaaaaa ggtgtgacgt gggacatcat caagctgcag gtcaacatgt
      781 acacagcacc agttttactt gcagccttcc tgggaattct aaacattatt ctgattcttt
      841 ttatattaag agagcatcgt gtggatgact tgggacgtca gtgtaagagt gtgaattttc
      901 aagaagaaaa tacagatgaa cctcagattc ctgaaggaag tattgatcaa gttgctgttg
      961 tggctaccaa tattgtgttt tttgtggttt tatttatctt tgctgtttat gaaacaatcc
     1021 tcaccccact aacactggat atgtacgcct ggacccagga gcaggctgtg ctctatgatg
     1081 gaatcctcct tgttgctttt ggagttgagg cagttcttgt cttcatgggg gttaaattac
     1141 tttccaaaaa gattggcgag cgtgctattc tcctgggagg atttgtggtt gtatgggtcg
     1201 gcttctttat cttgttaccc tggggaaatc agtttcccaa aatacagtgg gaagatttac
     1261 acaacagctc aacccctaat actacatttg gggaaataat tattggtctt tggaattctt
     1321 caagagaaga tcacagtgaa cagccaactg ggtgcccaat tgaacagacc tggtgcctgt
     1381 acaccccagt gattcatctg gcccagttcc tgacagctgc tgtgttaatt ggaacaggct
     1441 atccagcctg cagtgtcatg tcctatacat tatactcaaa agttctagga cccaaacctc
     1501 agggtatata catgggctgg ttaaccactt ctggaagtgc agcacggatt cttgggcctg
     1561 tgttcatcag ccatgtgtac acttacttgg gcccacgatg ggcattcagc cttgtgtgtg
     1621 gaatagtagt gctcaccatc ttgctaatag gagctgttta caaaagactc gttgcctttt
     1681 ctgtcagata tatgaggatc caggagtaag ttagagagtc tgtgctgtct actgtcttca
     1741 actcaacact gagtaacttg actttgaatg gtaggatgta taaaaacatt ctgggtataa
     1801 tctccttatc aaaggtgaac tgctttcata tcatacttta ctggagtccc atgaactcaa
     1861 cagtgaaaag ataatggtct gtaggtatga aactacactt agtgtgaact gtagggctct
     1921 gtataaagca atggactatg cagtggaact ggacaaaagt tctgtattaa tcagagccaa
     1981 catttagttt aaaaaatgaa acatttttta aactaaataa aaatattttt tcattaatgt
     2041 tttttaaaaa taaaaatgca ttattattca gcttcctaat gaaataaaac tgagccttaa
     2101 aacctgaaca ccattctttc caccttatac tacatggtct tctgaagctg tcagcagtaa
     2161 atgatggcag gcagcatttt ccttcagcca ctttgttttg ttggaccctg gatatcctct
     2221 cctgcctttc tgtgttttct ttcatctttg ggtcactgct gaccttaaaa ttccaccttt
     2281 gtgtggtatg cccagagaca gaaataacca gtgagaatga gagcacgcca acgtttctgt
     2341 gtaattcaca gtagtttctc acagcaagct tagagctgaa ggtaagatcc tgatctgtga
     2401 tacatatgaa tgaagtatac aagtcgcttg tctttagagg ctacctcatg attgctgcac
     2461 ttcctacagg aaaactgacc tgaacactaa cagttcttca attgcaagaa accatttcta
     2521 cttgtgactc agatttgcag atatttgggg aaaaagtaaa gtgcactgag tgaagaagcc
     2581 tttatcttag catacatgtt cccaccaaga acatgacaga catttcccag ccctagaatt
     2641 ctaatactgc cattcagaaa gctacaaccc agcaaaatga ctgcaccttc ttttttactg
     2701 agacactcgc ttcctgggag attagactaa catcacctca acaccaaagt gaagtaagag
     2761 gtatagggga gggagctgag aggtaaaaac tgttaatagt gtatattaaa gaaggagtga
     2821 aaaaaaaagg agtgaaaggg gcaatggtct tatttttgca aatctagcaa aggattattt
     2881 tcttattctg aatgtattgt cacttcataa agcatctcta gccattatgc ttttctattt
     2941 aaaacaagct cttttcttgt atgaaaatga aataagcttg tgaattttaa tttaatgaag
     3001 ataaactact atttggatct gactaccatt tactgttgaa gatttatttg taactttatt
     3061 ccattttgag tatttatttc aaataaagca agactgtaag aatctgtcat atttccagta
     3121 catatgaaga ggacctgaat acatgcctat tccaaagc
//
