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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
  • Gene Overview
    MyGene.info: MPZ
Location & Maps
more
  • Sequence Map
    Chr1:171150711-171161130 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10420 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.05 cM
  • Mapping Data
    15 experiments
Homology
more
  • Human Ortholog
    MPZ, myelin protein zero
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MPZ, myelin protein zero
    Orthology source: HomoloGene
  • Synonyms
    CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
  • Links
    NCBI Gene ID: 4359
    neXtProt AC: NX_P25189

  • Chr Location
    1q23.3; chr1:161304735-161309972 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Mpz mouse models; 7 with human MPZ associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; CMT1B   OMIM: 118200 View 2 models
Hypertrophic Neuropathy of Dejerine-Sottas   OMIM: 145900 View 1 model
Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive; CHN   OMIM: 605253 View 1 model
       Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH   OMIM: 609136 View 1 model
       Charcot-Marie-Tooth Disease, Axonal, Type 2I; CMT2I   OMIM: 607677
Charcot-Marie-Tooth Disease, Axonal, Type 2J; CMT2J   OMIM: 607736
Charcot-Marie-Tooth Disease, Dominant Intermediate D; CMTDID   OMIM: 607791
Roussy-Levy Hereditary Areflexic Dystasia   OMIM: 180800
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 6 alleles in 7 genetic backgrounds
    17 phenotypes from multigenic genotypes
    52 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.
  • All Mutations and Alleles
    20
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    6
  • Spontaneous
    1
  • Targeted
    1
  • Transgenic
    9
  • Genomic Mutations
    2 involving Mpz
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021546 VEGA Gene Model | MGI Sequence Detail 10420 C57BL/6J ±  kb
transcript OTTMUST00000051093 VEGA | MGI Sequence Detail 1278 Not Applicable  
polypeptide OTTMUSP00000023998 VEGA | MGI Sequence Detail 248 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    108 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    Genomic 3
    cDNA 11
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-12531, MGD-MRK-24045
References
more
  • Summaries
    All 127
    Developmental Gene Expression 31
    Diseases 3
    Gene Ontology 5
    Phenotypes 52
  • 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:226848 Patzig J, et al., Proteolipid protein modulates preservation of peripheral axons and premature death when myelin protein zero is lacking. Glia. 2015 Sep 22;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory