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Mpz Gene Detail
Summary
  • Symbol
    Mpz
  • Name
    myelin protein zero
  • Synonyms
    Mpp, P0
  • Feature Type
    protein coding gene
  • IDs
    MGI:103177
    NCBI Gene: 17528
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:170978282-170988699 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.05 cM
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    300 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103177
 protein coding gene Chr1:170978280-170988699 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016743
 protein coding gene Chr1:176928251-176938671 (+)
A/J MGP_AJ_G0016723
 protein coding gene Chr1:169732660-169743047 (+)
AKR/J MGP_AKRJ_G0016689
 protein coding gene Chr1:174810053-174822151 (+)
BALB/cJ MGP_BALBcJ_G0016684
 protein coding gene Chr1:170213960-170224639 (+)
C3H/HeJ MGP_C3HHeJ_G0016507
 protein coding gene Chr1:175061447-175072955 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017145
 protein coding gene Chr1:182810964-182821392 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014853
 protein coding gene Chr1:161409924-161420578 (+)
CAST/EiJ MGP_CASTEiJ_G0016088
 protein coding gene Chr1:174685017-174695407 (+)
CBA/J MGP_CBAJ_G0016482
 protein coding gene Chr1:189319978-189332687 (+)
DBA/2J MGP_DBA2J_G0016589
 protein coding gene Chr1:168571306-168581745 (+)
FVB/NJ MGP_FVBNJ_G0016585
 protein coding gene Chr1:166920261-166930939 (+)
LP/J MGP_LPJ_G0016660
 protein coding gene Chr1:178050788-178062582 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016612
 protein coding gene Chr1:196606851-196619227 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017182
 protein coding gene Chr1:174686347-174696732 (+)
PWK/PhJ MGP_PWKPhJ_G0015874
 protein coding gene Chr1:167792708-167803174 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015658
 protein coding gene Chr1:173476899-173487402 (+)
WSB/EiJ MGP_WSBEiJ_G0016150
 protein coding gene Chr1:174803135-174814285 (+)



Homology
more
  • Human Ortholog
    MPZ, myelin protein zero
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MPZ, myelin protein zero
  • Synonyms
    CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
  • Links
    NCBI Gene ID: 4359
    neXtProt AC: NX_P25189
    UniProt: P25189

  • Chr Location
    1q23.3; chr1:161303600-161309968 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Mpz mouse models; 6 with human MPZ associations

Human Disease Mouse Models
      
IDs
 View 10 models
IDs
 View 3 models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    11 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    56 phenotypes from 17 alleles in 17 genetic backgrounds
    20 phenotypes from multigenic genotypes
    76 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a spontaneous mutation exhibit premature death, infertility, neurological behavior defects, and demyelination. Mice homozygous for a knock-out allele exhibit abnormal myelination and neurological behavior defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    843
  • Tissues
    26
  • cDNA Data
    10
  • Literature Summary
    46
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17528 NCBI Gene Model | MGI Sequence Detail 10418 C57BL/6J ±  kb
    transcript NM_008623 RefSeq | MGI Sequence Detail 2018 ZRU/MplStud  
    polypeptide P27573 UniProt | EBI | MGI Sequence Detail 248 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 3
      cDNA 13
      Primer pair 1
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12531, MGD-MRK-24045
    References
    more
    • Summaries
      All 180
      Developmental Gene Expression 46
      Diseases 7
      Gene Ontology 7
      Phenotypes 76
    • Earliest
      J:10329 Popko B, et al., A novel mutation in myelin-deficient mice results in unstable myelin basic protein gene transcripts. Neuron. 1988 May;1(3):221-5
    • Latest
      J:345844 Guo Y, et al., Docking protein 6 (DOK6) selectively docks the neurotrophic signaling transduction to restrain peripheral neuropathy. Signal Transduct Target Ther. 2024 Feb 14;9(1):32
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory