LOCUS       NM_001302260            1996 bp    mRNA    linear   ROD 28-JAN-2025
DEFINITION  Mus musculus peripheral myelin protein 22 (Pmp22), transcript
            variant 5, mRNA.
ACCESSION   NM_001302260 XM_006532492
VERSION     NM_001302260.2
KEYWORDS    RefSeq.
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 1996)
  AUTHORS   Zerad,L., Gacem,N., Gayda,F., Day,L., Sinigaglia,K., Richard,L.,
            Parisot,M., Cagnard,N., Mathis,S., Bole-Feysot,C., O'Connell,M.A.,
            Pingault,V., Dambroise,E., Keegan,L.P., Vallat,J.M. and
            Bondurand,N.
  TITLE     Overexpression of Egr1 Transcription Regulator Contributes to
            Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1
            Knockout Mice
  JOURNAL   Cells 13 (23), 1952 (2024)
   PUBMED   39682701
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1996)
  AUTHORS   Cassinotti,L.R., Ji,L., Yuk,M.C., Desai,A.S., Cass,N.D., Amir,Z.A.
            and Corfas,G.
  TITLE     Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model
  JOURNAL   JCI Insight 9 (19), e180315 (2024)
   PUBMED   39178128
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1996)
  AUTHORS   Prior,R., Silva,A., Vangansewinkel,T., Idkowiak,J.,
            Tharkeshwar,A.K., Hellings,T.P., Michailidou,I., Vreijling,J.,
            Loos,M., Koopmans,B., Vlek,N., Agaser,C., Kuipers,T.B.,
            Michiels,C., Rossaert,E., Verschoren,S., Vermeire,W., de Laat,V.,
            Dehairs,J., Eggermont,K., van den Biggelaar,D., Bademosi,A.T.,
            Meunier,F.A., vandeVen,M., Van Damme,P., Mei,H., Swinnen,J.V.,
            Lambrichts,I., Baas,F., Fluiter,K., Wolfs,E. and Van Den Bosch,L.
  TITLE     PMP22 duplication dysregulates lipid homeostasis and plasma
            membrane organization in developing human Schwann cells
  JOURNAL   Brain 147 (9), 3113-3130 (2024)
   PUBMED   38743588
  REMARK    GeneRIF: PMP22 duplication dysregulates lipid homeostasis and
            plasma membrane organization in developing human Schwann cells.
REFERENCE   4  (bases 1 to 1996)
  AUTHORS   Krauter,D., Stausberg,D., Hartmann,T.J., Volkmann,S., Kungl,T.,
            Rasche,D.A., Saher,G., Fledrich,R., Stassart,R.M., Nave,K.A.,
            Goebbels,S., Ewers,D. and Sereda,M.W.
  TITLE     Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22
            gene-dosage diseases
  JOURNAL   EMBO Mol Med 16 (3), 616-640 (2024)
   PUBMED   38383802
REFERENCE   5  (bases 1 to 1996)
  AUTHORS   Lee,J.H., Park,S., Perez-Flores,M.C., Chen,Y., Kang,M., Choi,J.,
            Levine,L., Gratton,M.A., Zhao,J., Notterpek,L. and Yamoah,E.N.
  TITLE     Demyelination and Na+ Channel Redistribution Underlie Auditory and
            Vestibular Dysfunction in PMP22-Null Mice
  JOURNAL   eNeuro 11 (2) (2024)
   PUBMED   38378628
  REMARK    GeneRIF: Demyelination and Na[+] Channel Redistribution Underlie
            Auditory and Vestibular Dysfunction in PMP22-Null Mice.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1996)
  AUTHORS   Harrison,B.M.
  TITLE     The spinal cord-ventral root junction in the trembler mouse
  JOURNAL   Acta Neuropathol 38 (1), 33-38 (1977)
   PUBMED   855650
REFERENCE   7  (bases 1 to 1996)
  AUTHORS   Aguayo,A.J., Attiwell,M., Trecarten,J., Perkins,S. and Bray,G.M.
  TITLE     Abnormal myelination in transplanted Trembler mouse Schwann cells
  JOURNAL   Nature 265 (5589), 73-75 (1977)
   PUBMED   189201
REFERENCE   8  (bases 1 to 1996)
  AUTHORS   Low,P.A.
  TITLE     Hereditary hypertrophic neuropathy in the trembler mouse. Part 1.
            Histopathological studies: light microscopy
  JOURNAL   J Neurol Sci 30 (2-3), 327-341 (1976)
   PUBMED   187739
REFERENCE   9  (bases 1 to 1996)
  AUTHORS   Kirschner,D.A. and Sidman,R.L.
  TITLE     X-ray diffraction study of myelin structure in immature and mutant
            mice
  JOURNAL   Biochim Biophys Acta 448 (1), 73-87 (1976)
   PUBMED   971429
REFERENCE   10 (bases 1 to 1996)
  AUTHORS   Low,P.A. and McLeod,J.G.
  TITLE     Hereditary demyelinating neuropathy in the trembler mouse
  JOURNAL   J Neurol Sci 26 (4), 565-574 (1975)
   PUBMED   173808
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592215.12.
            
            On Apr 8, 2022 this sequence version replaced NM_001302260.1.
            
            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 :: SRR7345562.1252217.1,
                                           SRR17784647.1163085.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-339               AL592215.12        156676-157014
            340-459             AL592215.12        157138-157257
            460-559             AL592215.12        158434-158533
            560-700             AL592215.12        175132-175272
            701-1996            AL592215.12        182265-183560
FEATURES             Location/Qualifiers
     source          1..1996
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 38.99 cM"
     gene            1..1996
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /note="peripheral myelin protein 22"
                     /db_xref="GeneID:18858"
                     /db_xref="MGI:MGI:97631"
     exon            1..339
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /inference="alignment:Splign:2.1.0"
     exon            340..459
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /inference="alignment:Splign:2.1.0"
     CDS             382..864
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /note="isoform 1 is encoded by transcript variant 5;
                     growth arrest-specific protein 3; peripheral myelin
                     protein, 22 kDa"
                     /codon_start=1
                     /product="peripheral myelin protein 22 isoform 1"
                     /protein_id="NP_001289189.1"
                     /db_xref="CCDS:CCDS24837.1"
                     /db_xref="GeneID:18858"
                     /db_xref="MGI:MGI:97631"
                     /translation="MLLLLLGILFLHIAVLVLLFVSTIVSQWLVGNGHTTDLWQNCTT
                     SALGAVQHCYSSSVSEWLQSVQATMILSVIFSVLALFLFFCQLFTLTKGGRFYITGFF
                     QILAGLCVMSAAAIYTVRHSEWHVNTDYSYGFAYILAWVAFPLALLSGIIYVILRKRE
                     "
     exon            460..559
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /inference="alignment:Splign:2.1.0"
     exon            560..700
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /inference="alignment:Splign:2.1.0"
     exon            701..1996
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /note="hexamer: AATAAA"
     polyA_site      1996
                     /gene="Pmp22"
                     /gene_synonym="Gas-3; HNPP; PMP-22; Tr; TRE002; trembler"
                     /note="major polyA site"
ORIGIN      
        1 gctctccgct ggcaaaaacg ggtggaaact tggaggcaag taacggaacg cggggcgcgc
       61 tggggtctgg gaaaccagcc tcgggtggcg ggcgacccca ggcctctggc tgtgagcctg
      121 gcgccgcccg ctgagcctcc agtctcgggg ggaatccacc ctgtgactgg gtcagggacg
      181 tggcctcggt agcctcccaa gtcccaaggg ccctgaaagg cgcccaggct gggcggaggc
      241 ttgctgtggc ctcggctcat cgttcaggaa actcctctcc tccgcgcgcc tcccggggtg
      301 atcgggacgt gcgcaccact tgcttgtttt gttccaaagc aggcaccgct cctctgatcc
      361 cgagcccaac tcccagccac catgctccta ctcttgttgg ggatcctgtt cctgcacatc
      421 gcggtgctag tgttgctctt cgtctccacc atcgtcagcc aatggctcgt gggcaatgga
      481 cacacgactg atctctggca gaactgtacc acatccgcct tgggagccgt ccaacactgc
      541 tactcctcat cagtgagcga atggctgcag tctgtccagg ccaccatgat cctgtctgtc
      601 atcttcagcg tcctggctct gttcctgttc ttctgccagc tcttcactct caccaaaggc
      661 ggccggtttt acatcactgg attcttccaa atccttgctg gtctgtgcgt gatgagtgca
      721 gcggccatct acacagtgag gcacagtgag tggcatgtca acactgacta ctcctatggc
      781 ttcgcctaca tcctggcctg ggtggccttt cccctagccc tcctcagtgg tatcatctat
      841 gtgatcctgc ggaaacgcga atgaggcgcc cgacgacgca ccgtccgtct aggctctgag
      901 cgcgcatagg gtccacaggg agggaggaag gaaaccagag aacaaaacca accaaccaaa
      961 aaagagctag ccccaaaccc aaacgcaagc caaaccaaac agaacgcagt tgagtgggga
     1021 ttgctgttga ttgaagatgt atataatatc tatggtttat aaaacctatt tataacactt
     1081 tttacatata tgtacatagg attgttttgc tttttatgtt gaccgtcagc ctcgtgttga
     1141 atcttaaaca actttacatc ctaacactat aaccaagctc agtatctttg ttttgtttcg
     1201 tttttttttt taatcttttt gttttgctca gacataaaaa ctccacgtgg ccccctttca
     1261 tctgaaagca gatacctccc tcccactcaa cctcatagga taaccaaagt gtggggacaa
     1321 accccagaca gttgaagacc tttacactat gggtgaccca gtgcatttag caggagtatc
     1381 cactgcccga atccatgtgt gaagccctaa gcactcacag acgaaaagcc ctgaccggaa
     1441 ccctctgcaa aaacagtaat agctggtggc tcctgaacac ttgaccctgt agacggagta
     1501 ctggggccac acgtttaaat gagaagtcag agacaagcaa tctgtgaaat ggtgctatag
     1561 atttaccatt ccttgttatt actaatcgtt taaaccactc actggaaact caattaacag
     1621 ttttatgcga tacagcagaa tggagacccg atacaaacgg ttcataactg ctttcatacc
     1681 tagctaggct gttgttatta ctacaataaa taaatctcaa agccttcgtc agtcccacag
     1741 ttttctcacg gtcggagcat caggacgagc atctagaccc ttgggactag cgagttccct
     1801 ggctttctgg gtctagagtg ttctgtgcct ccaaggactg tctggcgatg acttgtattg
     1861 gccaccaact gtagatgtat atacggtgtc cttctgatgc taagactcca gacctttctt
     1921 gtttttgctt gctttctctg attttatacc aactgtgtgg actaagatgc atcaaaataa
     1981 acatcagagt aactca
//
