Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
matrix metallopeptidase 28 (epilysin)
Synonyms:
epilysin

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.

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 Mmp28 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 Mmp28 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... OMIM:202700
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Reduction of neutrophil motility, Neutrophilia, Recurrent otitis media OMIM:266265
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... OMIM:618986
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233710
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233690
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Abscess, Hem... OMIM:618935
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella... OMIM:306400
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Rec... OMIM:214500
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Leukocytosis, Brain abscess, Hemolytic anemia,... ORPHA:544482
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... OMIM:601495
Ch├ędiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Neutropenia, Vacuolated lymph... ORPHA:167
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... ORPHA:2442
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Abnormality of neutrophil physiology, Leuk... ORPHA:2968
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastrointestinal tr... OMIM:612132
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Sepsis, Recurrent bacterial infections, Aplastic ... ORPHA:811
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Splenomegaly ORPHA:567983
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... ORPHA:3132
Mastocytosis
Chronic leukemia, Acute leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

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 Mmp28

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 Mmp28.

No publications found that use IMPC mice or data for Mmp28.

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MGI Allele Allele Type Produced
Mmp28em1(IMPC)Ccpcz Inter-exon deletion Mice
Mmp28tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mmp28tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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