Gene Summary

Name:
matrix metallopeptidase 12
Synonyms:
macrophage elastase,  MMP12,  Mmel

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mmp12 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mmp12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of olig... OMIM:312080
Progressive Multifocal Leukoencephalopathy
CNS demyelination, Abnormal oligodendroglia morphology, Abnormal astrocyte morphology ORPHA:217260
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination OMIM:618324
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Lissencephaly 8
Abnormal myelination OMIM:617255
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Gliosis, Cerebral hypomyelination ORPHA:280210
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Abnormal myelination ORPHA:34527
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal myelination ORPHA:442835
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Monosomy 18Q
Abnormal myelination, Decreased circulating IgA level, Astrocytoma ORPHA:1600
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal myelination, Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination ORPHA:466768
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Abnormal myelination, Delayed myelination, Gliosis ORPHA:404454
Cockayne Syndrome Type 3
Astrocytosis, Abnormal myelination, Demyelinating peripheral neuropathy ORPHA:90324
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mmp12

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mmp12.

No publications found that use IMPC mice or data for Mmp12.

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MGI Allele Allele Type Produced
Mmp12tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mmp12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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