LOCUS       NM_029553               2278 bp    mRNA    linear   ROD 28-JAN-2025
DEFINITION  Mus musculus tetratricopeptide repeat domain 8 (Ttc8), transcript
            variant 2, mRNA.
ACCESSION   NM_029553
VERSION     NM_029553.4
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 2278)
  AUTHORS   Pak,T.K., Carter,C.S., Zhang,Q., Huang,S.C., Searby,C., Hsu,Y.,
            Taugher,R.J., Vogel,T., Cychosz,C.C., Genova,R., Moreira,N.N.,
            Stevens,H., Wemmie,J.A., Pieper,A.A., Wang,K. and Sheffield,V.C.
  TITLE     A mouse model of Bardet-Biedl Syndrome has impaired fear memory,
            which is rescued by lithium treatment
  JOURNAL   PLoS Genet 17 (4), e1009484 (2021)
   PUBMED   33886537
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2278)
  AUTHORS   Schneider,S., De Cegli,R., Nagarajan,J., Kretschmer,V.,
            Matthiessen,P.A., Intartaglia,D., Hotaling,N., Ueffing,M.,
            Boldt,K., Conte,I. and May-Simera,H.L.
  TITLE     Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the
            Retinal Pigment Epithelium
  JOURNAL   Front Cell Dev Biol 9, 607121 (2021)
   PUBMED   33681195
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2278)
  AUTHORS   Hsu,Y., Garrison,J.E., Seo,S. and Sheffield,V.C.
  TITLE     The absence of BBSome function decreases synaptogenesis and causes
            ectopic synapse formation in the retina
  JOURNAL   Sci Rep 10 (1), 8321 (2020)
   PUBMED   32433491
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2278)
  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   5  (bases 1 to 2278)
  AUTHORS   Singh,M., Garrison,J.E., Wang,K. and Sheffield,V.C.
  TITLE     Absence of BBSome function leads to astrocyte reactivity in the
            brain
  JOURNAL   Mol Brain 12 (1), 48 (2019)
   PUBMED   31072410
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2278)
  AUTHORS   Forti,E., Aksanov,O. and Birk,R.Z.
  TITLE     Temporal expression pattern of Bardet-Biedl syndrome genes in
            adipogenesis
  JOURNAL   Int J Biochem Cell Biol 39 (5), 1055-1062 (2007)
   PUBMED   17379567
REFERENCE   7  (bases 1 to 2278)
  AUTHORS   Stoetzel,C., Laurier,V., Faivre,L., Megarbane,A.,
            Perrin-Schmitt,F., Verloes,A., Bonneau,D., Mandel,J.L., Cossee,M.
            and Dollfus,H.
  TITLE     BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome
            families
  JOURNAL   J Hum Genet 51 (1), 81-84 (2006)
   PUBMED   16308660
REFERENCE   8  (bases 1 to 2278)
  AUTHORS   Beales,P.L.
  TITLE     Lifting the lid on Pandora's box: the Bardet-Biedl syndrome
  JOURNAL   Curr Opin Genet Dev 15 (3), 315-323 (2005)
   PUBMED   15917208
  REMARK    Review article
REFERENCE   9  (bases 1 to 2278)
  AUTHORS   Blacque,O.E., Reardon,M.J., Li,C., McCarthy,J., Mahjoub,M.R.,
            Ansley,S.J., Badano,J.L., Mah,A.K., Beales,P.L., Davidson,W.S.,
            Johnsen,R.C., Audeh,M., Plasterk,R.H., Baillie,D.L., Katsanis,N.,
            Quarmby,L.M., Wicks,S.R. and Leroux,M.R.
  TITLE     Loss of C. elegans BBS-7 and BBS-8 protein function results in
            cilia defects and compromised intraflagellar transport
  JOURNAL   Genes Dev 18 (13), 1630-1642 (2004)
   PUBMED   15231740
REFERENCE   10 (bases 1 to 2278)
  AUTHORS   Ansley,S.J., Badano,J.L., Blacque,O.E., Hill,J., Hoskins,B.E.,
            Leitch,C.C., Kim,J.C., Ross,A.J., Eichers,E.R., Teslovich,T.M.,
            Mah,A.K., Johnsen,R.C., Cavender,J.C., Lewis,R.A., Leroux,M.R.,
            Beales,P.L. and Katsanis,N.
  TITLE     Basal body dysfunction is a likely cause of pleiotropic
            Bardet-Biedl syndrome
  JOURNAL   Nature 425 (6958), 628-633 (2003)
   PUBMED   14520415
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC159193.2, AK081697.1 and AC142227.3.
            
            On Jun 15, 2018 this sequence version replaced NM_029553.3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AK002597.1, AK081697.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AC159193.2         21577-21610         c
            35-1959             AK081697.1         2-1926
            1960-2278           AC142227.3         56906-57224
FEATURES             Location/Qualifiers
     source          1..2278
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 49.88 cM"
     gene            1..2278
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /note="tetratricopeptide repeat domain 8"
                     /db_xref="GeneID:76260"
                     /db_xref="MGI:MGI:1923510"
     exon            1..210
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1614
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /note="isoform 2 is encoded by transcript variant 2;
                     tetratricopeptide repeat protein 8; TPR repeat protein 8;
                     bardet-Biedl syndrome 8 protein homolog"
                     /codon_start=1
                     /product="tetratricopeptide repeat protein 8 isoform 2"
                     /protein_id="NP_083829.1"
                     /db_xref="CCDS:CCDS26101.1"
                     /db_xref="GeneID:76260"
                     /db_xref="MGI:MGI:1923510"
                     /translation="MGSEMEPLLRAWSYFRRRKFQLCADLCTQMLEKSPYDQAAWILK
                     ARALTEMVYIDEIDVDQEGIAEMILDENAIAQVPRPGTSLKLPGTNQTGGPTQAVRPI
                     TQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSP
                     DGPFINLSRLNLTKYSQKPKLAKALFEYILHHENDVKMALDLASLSTEYSQYKDWWWK
                     VQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYIILDQPVTALNLFKQGLD
                     KFPGEVTLLCGIARIYEEMNNSSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEV
                     ALRFYRRLLQMGVYNCQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYN
                     LGHIAVGIGDTNLAHQCFRLALVHNNHHAEAYNNLAVLEMRKGHVEQARALLQTASSL
                     APHMYEPHFNFATVSDKIGDLQRSYVAAQKSEVAFPEHVDTQHLIKQLKQHFAML"
     exon            211..331
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            332..395
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            396..555
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            556..645
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            646..690
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            691..776
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            777..864
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            865..975
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1115
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1290
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1413
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1497
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     exon            1498..2278
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2258..2263
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /note="hexamer: AATAAA"
     polyA_site      2278
                     /gene="Ttc8"
                     /gene_synonym="0610012F22Rik; BBS8"
                     /note="major polyA site"
ORIGIN      
        1 agacgcctcc cgctcgctgc tcccgaaccc cgccctcccc gggccgggct ctgggtacag
       61 ggcctctggg ttccttgagg gttgtcccgg accaccatgg gctcagagat ggagccactg
      121 ctccgggcct ggagctattt tagacgcagg aagttccagc tctgcgccga tctatgcacg
      181 cagatgctgg agaaatcccc ttatgatcag gcggcttgga ttttgaaagc acgggcgctg
      241 acagagatgg tgtacataga tgaaattgat gtggaccagg aaggaattgc tgaaatgatc
      301 ctggatgaaa atgctattgc tcaggtccca cgccctggca catctttgaa gctccctggc
      361 actaaccaaa caggaggacc gactcaagct gtcaggccaa tcactcaagc tggaagaccc
      421 ataacaggtt tccttaggcc cagcacacag agtggaagac caggtacaat ggaacaggcc
      481 atcagaacac ccagaactgc ctacacagca cgacctatca ctagctcatc tggaagattc
      541 gtcagactgg ggactgcttc catgcttaca agtcccgatg gaccatttat aaatttatct
      601 agactgaatt taacaaaata ttcccagaag cctaagttgg caaaggctct atttgaatat
      661 attctccacc atgaaaacga tgttaagatg gctttggatt tggcgtccct ttccacggag
      721 tattctcagt acaaggactg gtggtggaag gtacagattg gaaaatgtta ctacaggtta
      781 ggaatgtacc gtgaagcaga gaaacagttt aaatcagcct tgaagcagca ggaaatggta
      841 gacacatttc tctatctggc aaaagtttat atcatattgg atcaacctgt gactgcttta
      901 aatctattta aacaaggctt agataagttt ccaggagagg tgaccctgct ttgtggaatt
      961 gccaggatct atgaggaaat gaataacagt tcatctgcag cagagtacta caaagaagtt
     1021 ctaaaacaag acaatactca cgtggaagcc atcgcctgca ttggaagcaa ccacttttat
     1081 tctgaccagc cagaggttgc ccttcggttt tacaggcgcc tcttgcagat gggagtttat
     1141 aactgccagc ttttcaacaa cctgggcctg tgctgcttct atgcccagca gtacgatatg
     1201 accctgacct cgtttgaacg tgccctttcc ctggctgaaa atgaagaaga ggcagctgat
     1261 gtctggtaca acctggggca catagctgtg ggaatcggag atacaaactt ggcccaccaa
     1321 tgcttcaggc tggccctggt ccacaacaac caccatgctg aagcctacaa caacctggca
     1381 gtgctggaga tgcggaaggg tcacgttgaa caggcacgcg cgctcttaca aaccgcatcg
     1441 tctttggcac cccacatgta tgagccacac tttaatttcg caacagtctc tgataagatt
     1501 ggagatcttc agagaagcta cgttgctgct cagaagtctg aagtggcgtt tcctgaacac
     1561 gtggacacac agcacttaat taagcagctg aagcagcact ttgctatgct ctgatcagtg
     1621 cttgggccac ataagccttc acggagggcc agcgcacagg gaagaaaacg cactgagtgc
     1681 atttgtacca atactgtgat gcagacctca taaggcatcc tacaagactg caaacccgaa
     1741 cctgttgtct gaactttgtt gttttataag gtaacactag aaaaacagga cttaagcatt
     1801 tcctagtttt atcaattaaa aaatttattg ttagatacag acattttcaa agacatatgt
     1861 catatatgtt gggtgcactt ctgccatgct ctcctctccc attagtcccc tttgtcccct
     1921 agacactttc atgtcacctg tatgggcatg agtttaggta tctgactaag atctagaagc
     1981 cgcagattag agaagaaaca caatgtatat agttgttaaa cattttcatg aacctcaatt
     2041 tttttataaa tgtgtatttt aaaacttgtt aagcaaaaaa aaaactcttt aatcattagc
     2101 tgtcattata aacttaggag gtcagaaatc tgctttaaaa tttttatttt tatggctaat
     2161 aatgtgtgct tttatcacaa atgctttaat tagaacatga aaatttgtat tttaaactat
     2221 ttttatcata aagtttgtat tatatattac actttaaaat aaatcagtat gtaaaaca
//
