LOCUS       NM_012000               6432 bp    mRNA    linear   ROD 17-DEC-2022
DEFINITION  Mus musculus CLN8 transmembrane ER and ERGIC protein (Cln8), mRNA.
ACCESSION   NM_012000
VERSION     NM_012000.3
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 6432)
  AUTHORS   Salpeter EM, Leonard BC, Lopez AJ, Murphy CJ, Thomasy S, Imai DM,
            Grimsrud K, Lloyd KCK, Yan J, Sanchez Russo R, Shankar SP and
            Moshiri A.
  TITLE     Retinal degeneration in mice and humans with neuronal ceroid
            lipofuscinosis type 8
  JOURNAL   Ann Transl Med 9 (15), 1274 (2021)
   PUBMED   34532411
REFERENCE   2  (bases 1 to 6432)
  AUTHORS   Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D,
            Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen
            R, Schekman RW and Sardiello M.
  TITLE     A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi
            transfer
  JOURNAL   J Clin Invest 130 (8), 4118-4132 (2020)
   PUBMED   32597833
  REMARK    GeneRIF: A CLN6-CLN8 complex recruits lysosomal enzymes at the ER
            for Golgi transfer.
REFERENCE   3  (bases 1 to 6432)
  AUTHORS   Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone
            L, Naggert JK, Nishina PM and Krebs MP.
  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   4  (bases 1 to 6432)
  AUTHORS   di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ,
            Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC,
            Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM and
            Sardiello M.
  TITLE     CLN8 is an endoplasmic reticulum cargo receptor that regulates
            lysosome biogenesis
  JOURNAL   Nat Cell Biol 20 (12), 1370-1377 (2018)
   PUBMED   30397314
  REMARK    GeneRIF: Ceroid-lipofuscinosis neuronal 8 protein (Cln8) knockout
            strain, which bears an early frameshift mutation in Cln8 that
            causes CLN8 protein deficiency and features resembling those seen
            in Batten disease.
REFERENCE   5  (bases 1 to 6432)
  AUTHORS   Palmer DN, Barry LA, Tyynela J and Cooper JD.
  TITLE     NCL disease mechanisms
  JOURNAL   Biochim Biophys Acta 1832 (11), 1882-1893 (2013)
   PUBMED   23707513
  REMARK    Review article
REFERENCE   6  (bases 1 to 6432)
  AUTHORS   Messer A, Plummer J, Maskin P, Coffin JM and Frankel WN.
  TITLE     Mapping of the motor neuron degeneration (Mnd) gene, a mouse model
            of amyotrophic lateral sclerosis (ALS)
  JOURNAL   Genomics 13 (3), 797-802 (1992)
   PUBMED   1639406
REFERENCE   7  (bases 1 to 6432)
  AUTHORS   Bakalian A, Kopmels B, Messer A, Fradelizi D, Delhaye-Bouchaud N,
            Wollman E and Mariani J.
  TITLE     Peripheral macrophage abnormalities in mutant mice with
            spinocerebellar degeneration
  JOURNAL   Res Immunol 143 (1), 129-139 (1992)
   PUBMED   1565842
REFERENCE   8  (bases 1 to 6432)
  AUTHORS   Mazurkiewicz JE.
  TITLE     Ubiquitin deposits are present in spinal motor neurons in all
            stages of the disease in the motor neuron degeneration (Mnd) mutant
            of the mouse
  JOURNAL   Neurosci Lett 128 (2), 182-186 (1991)
   PUBMED   1658691
REFERENCE   9  (bases 1 to 6432)
  AUTHORS   Callahan LM, Wylen EL, Messer A and Mazurkiewicz JE.
  TITLE     Neurofilament distribution is altered in the Mnd (motor neuron
            degeneration) mouse
  JOURNAL   J Neuropathol Exp Neurol 50 (4), 491-504 (1991)
   PUBMED   2061715
REFERENCE   10 (bases 1 to 6432)
  AUTHORS   Messer,A. and Flaherty,L.
  TITLE     Autosomal dominance in a late-onset motor neuron disease in the
            mouse
  JOURNAL   J Neurogenet 3 (6), 345-355 (1986)
   PUBMED   3783318
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK166905.1 and AC108844.8.
            
            [WARNING] On Oct 19, 2023 this sequence was replaced by
            NM_012000.4.
            
            On Sep 21, 2006 this sequence version replaced NM_012000.2.
            
            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 :: AK166905.1, AK049145.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [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
            1-2650              AK166905.1         426-3075
            2651-6432           AC108844.8         28742-32523         c
FEATURES             Location/Qualifiers
     source          1..6432
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 7.59 cM"
     gene            1..6432
                     /gene="Cln8"
                     /gene_synonym="mnd; Tlcd6"
                     /note="CLN8 transmembrane ER and ERGIC protein"
                     /db_xref="GeneID:26889"
                     /db_xref="MGI:MGI:1349447"
     exon            1..583
                     /gene="Cln8"
                     /gene_synonym="mnd; Tlcd6"
                     /inference="alignment:Splign:2.1.0"
     exon            584..1242
                     /gene="Cln8"
                     /gene_synonym="mnd; Tlcd6"
                     /inference="alignment:Splign:2.1.0"
     CDS             700..1566
                     /gene="Cln8"
                     /gene_synonym="mnd; Tlcd6"
                     /note="ceroid-lipofuscinosis, neuronal 8; motor neuron
                     degeneration"
                     /codon_start=1
                     /product="protein CLN8"
                     /protein_id="NP_036130.1"
                     /db_xref="CCDS:CCDS40239.1"
                     /db_xref="GeneID:26889"
                     /db_xref="MGI:MGI:1349447"
                     /translation="MTPVSSHGLAESIFDLDYASWKIRSTLAVAGFVFYLGVFVVCHQ
                     LSSSLNATYRSLAAKEKVFWNLAATRAVFGVQSTTAGLWALLGDPVLYADKALGQQNW
                     CWFHITTATGFFFFENVAVHLSNLFFRTFDLFLVVHHLFAFLGFLGSAINLRAGHYLA
                     MTTLLLEMSTPFTCISWMLLKAGWSDSLFWKANQWLMIHMFHCRMILTYHMWWVCFCH
                     WDALTSSLHLPHWALFLFGLALLTAVINPYWTHKKTQQLLHPVDWNFAQEEAKGSRQE
                     RTNGQVPRKKRL"
     exon            1243..6432
                     /gene="Cln8"
                     /gene_synonym="mnd; Tlcd6"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aaagagggaa gggacaggga gtgaaggggt gtacgtagga gggtcttggg ggacggtcca
       61 cacagaggat cgtggaaggt cagttggggt gggggttgag gaattcctcc actgatccct
      121 ccgtaccact cttaaggtcc cagcaccaac ttgagctacg atagtcaaat ctagcatagc
      181 gcgctgcgaa ctgtgtagcc tgctccaggc acccccatgg cgctggatgg gatgatccta
      241 ccccaactcg tgccccccga gtctaccttg gtagcgtcct agggaggcga ggcttagggc
      301 ttcagcagtg cgcgtgcgca gtggatagtg tttgctcagc gcgcgacact gtcgtgggtg
      361 atttctccgg tgctaggggc gggatggcct gaaagcgggg tgcccagctg aggcggggac
      421 acagatgggc gtggggccct agtctccagt gccactcagc gaccggtatt ctatctggct
      481 ccggtcacga ggtgtgtcta cggctcagga gctcctggga cagcgagtct aagcagctga
      541 tggaccaaga ggcggcgccc cccttctgct cacctgaatg cagattgagg atgggtaccc
      601 gaaggtccta gcgacaactt tgctgaaact gaagagcggt gtcaagccca gccgcccgct
      661 gttggccccg ggggctctcc tggcatccag attcagatca tgactcctgt gagcagccac
      721 ggcttggcgg agagcatttt tgacctggac tacgcttcgt ggaagattcg gtcgactcta
      781 gcggttgctg gctttgtctt ctacctgggc gtctttgtag tctgccatca gctctcatcg
      841 tccctgaatg ccacctaccg ctccctggcg gccaaagaga aggtcttctg gaacctggcg
      901 gcgacgcgtg ctgtcttcgg cgtccagagc acaactgcag gcctgtgggc cctgctggga
      961 gaccccgtgc tctatgccga caaagctctc gggcagcaga actggtgttg gtttcacatc
     1021 accacggcca ctggcttctt cttctttgag aatgtggccg ttcacctgtc caacctgttc
     1081 ttccgcacct ttgacttgtt tctggttgtc caccacctct ttgcctttct tgggttcctg
     1141 ggttcagcga tcaatctcag agctggccac tatctagcca tgaccacgtt gctcctagag
     1201 atgagcacgc ccttcacctg catttcctgg atgctcctga aggctgggtg gtcagactcc
     1261 ctgttctgga aggccaacca gtggctaatg atccacatgt ttcactgtcg aatgatcctc
     1321 acctaccaca tgtggtgggt gtgcttctgt cactgggacg ccctcaccag cagcctgcac
     1381 ctgccccact gggcactgtt ccttttcggg ctggccctgc tcacggccgt cattaaccct
     1441 tactggacac acaagaagac ccagcagctc ctccatcccg tggattggaa ctttgcacag
     1501 gaggaagcca agggcagcag gcaagaaagg accaatggcc aggtgcctcg gaaaaagagg
     1561 ttgtagcggc gcccacccag ggactgggtg gaccatgatg ccgactgggg agtgtccagg
     1621 gttggacaaa gctccacagt gactctttac gtatggatgg ggacatagat aagtttatat
     1681 ctaggtgaat actaacttgt tccttactat gaattctaaa gtacccatga agtattgctg
     1741 gggcctcgac gtgcctggaa gaggtctttg ccatcatgac tttcctctga gtcttctggc
     1801 gtggccccaa ccacagcaca tctgccaagg cagtgctagg gaaggagcaa tggcagccag
     1861 gtgtgcaggc tgctgaggaa gccagtctgg agccctgcga cgattcatcg ggaaggacct
     1921 cgtgtgggtg tgggtgtgcc ttatttggaa gtcgtgttct ttttcattgc aacaaattga
     1981 ccctaagaaa atgtgatttg ctgatcatat ttatttacta gcctggggaa ttttaagccc
     2041 gtggcagtgc actgccctct agtggcaaga ggcagaagga cagagttatg gtaaggggtt
     2101 ctccttggct tactagagtc tgcccacccc tcctggagtg gtggtggtgg tgtgaaatct
     2161 tgtacttcaa aaacaaacaa gcaaacaaca aaaaacccca aggaacctaa taaccttttt
     2221 gaaaaacaaa ataatgagaa tttttagtga tatatttctt atttgacaga ataaggtgtc
     2281 tggagggggt cctgtactca tcctcgtgtc gctcatcctg agtcgctagg gccccgagca
     2341 agcaccttgc ctgacatgac catgggaaca tgttctcgcc gcgctgtttg caggttagac
     2401 ctccagacac cggctagcaa tgctatcggc agacacaaaa actttcccag agaacagtta
     2461 aagaacaagg gggtttttgt ttgtttgttt gtttgtttgt ttgggttttt gttgatttgt
     2521 tttgtcaaaa ctacctgaga aatggtggtt gctcttgaaa atcatgtgtg acttaggctt
     2581 gcctcagcag ccctttaact ttatgaggat gtatgatgcc tattttatta taaagtagcc
     2641 cattaacttt atgaggaggt atgatgccta tttatttcaa tctaagaaag cccttacttt
     2701 gtgttcctaa gataatcaac tgaactgaaa accctgtagc tcctgtgtct gctttgttga
     2761 ggcaccagcc tggcattttt gttttttttt tgtttttttt taagctgggc agaggcttaa
     2821 tatagtgaca gctctttcca aaacccaaac atacttcctg tctgataacg tgacccgaag
     2881 ctcacctgag tgcctgagaa cactctgcgt cctgaacatg ttggcaagtc ttcaatggga
     2941 ccaggatggg gttagagagt gtcttagtcg ggcatttcta ttcctgccca aaacatcatg
     3001 accaagaagc aagttgggga ggaaagggtt tattcagctt acacttttcc acatggctgt
     3061 tcatcactaa aggaagtcag gactagaact caagcaggtc aggaagcagg agctgatgca
     3121 gaggccatgg gttgatgtga cttactggct tgccctggct ttctcagcct gctctcttaa
     3181 agaagccaag actaccagcc caaggttggc accacccaca atgggccctc cccccttgat
     3241 cactgattga gaaaatgccc cacagctgga tctcatggag gcgtttcctc aagggaggct
     3301 cctttctctg tggtaacaac agcttgtgtc aagctaacac acagaagcgg ctgggacagg
     3361 gagatcatct gactttcgct ggcctctaca aggagtgtga cctcaggtta catcctccgt
     3421 cttcacgtgt gtcagctgag tgccattcca tagctcaggt gacctttggt cactccacac
     3481 acatctcctt tctgaccagg acttctcccc ggaaccttgg agacaagtat tcatgagaag
     3541 gctctgcaat ggagcaagca ctagtccctg cctagagtag tggctctctc gccatgattt
     3601 ttttaataca gttgctcatg ctgtggtgat ccccaaccat gaagttattt tcgttgctac
     3661 ttcataaccg taattttgct attatcataa ttaaatatct gcgtgtccca acctcttgtg
     3721 aaagggtcga tcgaccacca aagaggtcat gacccacagg ttgagaacac tggcctagag
     3781 aggggccacc cttcccagct atagtacctt tgtggtctcc agtgtcctgc cagacagatc
     3841 tcggagaggg gcatggtcca gaggacacga ggagccgcag ctcactaatg tgagcctagg
     3901 ctggcctgct ctgtggccca cactggccaa gattccactg cacgtgtgcc ccactagact
     3961 cctacatcag ctgttaggaa ttagaatggg gtatcgcttg gtagtagaga acttacttag
     4021 catgtaggaa gccttcctgg cttctgtctt cagccactgg agaagagacg ctctcctact
     4081 tgaccggtat ggaaaatcaa aaacgttctc cctttctcgc cacgtagatg ttttacatgt
     4141 tcccatgttt tcaacagtag aggatgtgat ggtcaggggc agcagcccag cgtcttcccc
     4201 atctcttccc gatggcttgc ccttttcccg atggcttgcc cttgcccctt caatttagca
     4261 acgaggttcc aacttctctc agcagcatac cataggctcc tcaaagtagc actggacttg
     4321 gtgcagcaga gctagtgact ggctgtgtgc tgttgtcttc tgtgaagcct atgggtcaca
     4381 aggctctcct tccacagaca gctcctcagt aggccctgtg gcttccacgg caacattgct
     4441 agcaagaggc cataccccta cctgagccct taagtctctg ttcacacagc ctgtggtgac
     4501 cctcctgatg ggaactaagc attgcctcat tcctgtgtgc cgtaggggcg acacctgagc
     4561 ctgggtccta gagaaagagc agagactagc catttctagt tttgtagggt ggaggtccaa
     4621 agtcaggtgc tggcagcttc agtcaggaag aggcccagta cttcctacgt ggaatgtttc
     4681 tttacctcca ggagaaagct atgccatata tctaaggagc agaagggctg aaaagattca
     4741 ggaagcccaa gtgagtttcc tggaggcctt tataaggatc actgtctgga cacatggtga
     4801 cttaagtgtt ttctttggct ggggctgtct ctgattgtgg aagctagtgg ctgggaggag
     4861 gcccttgcct atccccaacc atggatgtaa tgcgtccaca taaccttagt ggggcacatt
     4921 caaatgctag tacaaaaaag agtgttgcca caccccgtgt cagtaagatc tcattcgttc
     4981 cacaaagggc tgatgcctct tgttccctgt agagagaata ttgtatgtat tgtatggatg
     5041 cgtcacctgt caattaaaaa gcctatgtgt ggcctacggc ttaggcaaaa actagaaggt
     5101 ggaacatcca gggggcagaa agaattctgg gatagagcca ggcaggaggt cgcctggtaa
     5161 gacatgagga gactgatgtg tggtacccaa acacaggtaa ccagccacat ggcaaaatgt
     5221 agattaaaat aaattttaag ttatgattct agtcagagaa gagcctagct atctggccaa
     5281 ggtattttgt aaatatattt tgagcctgag tcttatttct gagagcatgg ggctggggga
     5341 tgggagggag aaccggaggt gatttttaca gttctctgac catttccagt gatggctgcc
     5401 cagccactgg caagtgagtg ggtgaaccac ccaatggaag gtaacctctg tcttccaagt
     5461 ggggtcctgg cagaagacat gctaacccag agctagacag tgtttgctga gggcatattc
     5521 aacaaggtaa gccagggtag gaggccagga agccagctcc atctcacaca gccagaaggg
     5581 ctttggggag agacaggtag ccagtacagg aactatggcg ctagtctttc ctctcacggt
     5641 gacagaccag tgagttggtt acacagattg atacatagga gacatttctt ttgttaaaac
     5701 tatgaagtgt gttacaaact aaaaggctct gggttgttgg tacagtgtga atgttggcag
     5761 ggcatagcct aaaatggaat ttgccccttg ggatgttgag tctaactcag gctgaggacc
     5821 aggctcaggc cacgcctaag cttcccttct cttcaatgct ggctgttttc ggcccccagt
     5881 tccatccgag ggcctggagc tgcaggaaga agccagagcc atctatgatc tcagttcaac
     5941 aggccccata agactcacct agcagaaaac caacaaaaga cacacgtgtc attaatactt
     6001 gatacattta agtcaattct gtgtctaaat ttttgctgtg tcctaatgtt tcaggatatt
     6061 aattcaatgt gccttttttt gaccccccct ccatttcagt atactatgca catttttatt
     6121 tctgttacaa atttttaatt gcctagggtt agagagagag ctcagtggta aatgtttgta
     6181 ttgtatacac tagtcctcag gctccagcca cagaaccaca aataaaaaat aagttaaaaa
     6241 aaaaaaagaa ccccagcggc cgctactgga tgaccctggg caatgtggtg cccaaggggg
     6301 gatttcctct tctctaaaga caagggggga tggtaatgga tagaaggaat tgtaagggtg
     6361 aggttgggag gagggacggc tagggcctgc catcttcatg taaagtaaat aaacgttggt
     6421 aaaaccccca aa
//
