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Mmp13 Gene Detail
Summary
  • Symbol
    Mmp13
  • Name
    matrix metallopeptidase 13
  • Synonyms
    Clg, collagenase-1, Collagenase-3, interstitial collagenase, Mmp1, MMP-13
  • Feature Type
    protein coding gene
  • IDs
    MGI:1340026
    NCBI Gene: 17386
  • Gene Overview
    MyGene.info: MMP13
Location & Maps
more
  • Genetic Map
    Chromosome 9, 2.46 cM, cytoband A1-A2
  • Mapping Data
    2 experiments
Homology
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  • Human Ortholog
    MMP13, matrix metallopeptidase 13
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MMP13, matrix metallopeptidase 13
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CLG3, MANDP1, MDST, MMP-13
  • Links
    NCBI Gene ID: 4322
    neXtProt AC: NX_P45452

  • Chr Location
    11q22.3; chr11:102942992-102955734 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human MMP13 associations

Human Disease Mouse Models
       Metaphyseal Dysplasia, Spahr Type; MDST   OMIM: 250400
Spondyloepimetaphyseal Dysplasia, Missouri Type   OMIM: 602111
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 4 alleles in 5 genetic backgrounds
    12 phenotypes from multigenic genotypes
    2 images
    25 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.
Homozygous null mice display increased width of hypertrophic chondrocyte zone and increased trabecular bone.
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 17386 NCBI Gene Model | MGI Sequence Detail 10820 C57BL/6J ±  kb
transcript NM_008607 RefSeq | MGI Sequence Detail 2675 C57BL/6  
polypeptide P33435 UniProt | EBI | MGI Sequence Detail 472 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    59 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 39
    Genomic 1
    cDNA 25
    Primer pair 7
    Other 6

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-12276, MGD-MRK-2012, MGI:97006
References
more
  • Summaries
    All 197
    Developmental Gene Expression 122
    Gene Ontology 10
    Phenotypes 25
  • Earliest
    J:2506 Henriet P, et al., Cloning and sequencing of mouse collagenase cDNA. Divergence of mouse and rat collagenases from the other mammalian collagenases. FEBS Lett. 1992 Sep 28;310(2):175-8
  • Latest
    J:232434 Huang H, et al., Ablation of the Sox11 Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence. J Biol Chem. 2016 Mar 25;291(13):7107-18

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory