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Gene: Mmp11 MGI:97008

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Gene Summary

Name:
matrix metallopeptidase 11
Synonyms:
ST3,  Stmy3,  stromelysin 3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased monocyte cell number Mmp11tm1b(EUCOMM)Hmgu HOM Early adult 2.79×10-11
abnormal tail morphology Mmp11tm1b(EUCOMM)Hmgu HOM Early adult 2.04×10-06
decreased mean corpuscular hemoglobin concentration Mmp11tm1b(EUCOMM)Hmgu HOM Early adult 2.84×10-05
decreased mean corpuscular hemoglobin Mmp11tm1b(EUCOMM)Hmgu HOM   Early adult 4.42×10-05
decreased T cell number Mmp11tm1a(EUCOMM)Hmgu HET Early adult 9.92×10-05
preweaning lethality, incomplete penetrance Mmp11tm1a(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating serum albumin level Mmp11tm1b(EUCOMM)Hmgu HOM Early adult 1.38×10-05
decreased total retina thickness Mmp11tm1b(EUCOMM)Hmgu HOM Early adult 2.51×10-05
abnormal heart morphology Mmp11tm1a(EUCOMM)Hmgu HET Early adult 1.88×10-07
decreased circulating triglyceride level Mmp11tm1a(EUCOMM)Hmgu HET Early adult 1.09×10-05
abnormal skin coloration Mmp11tm1b(EUCOMM)Hmgu HOM Early adult 1.03×10-19

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Mmp11 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 Mmp11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Retinopath... ORPHA:251380
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... ORPHA:507
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypert... OMIM:619313
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... OMIM:619644
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Diarrhea 13
Hypoalbuminemia OMIM:620357
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia OMIM:608104
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin, Hypertriglyceridemia OMIM:617575
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly,... OMIM:620565
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho... ORPHA:1667
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia, Leukopenia, Splenomegaly, Neutrop... OMIM:617303
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Leukocytosis, Lung abscess, Anemia, Liver abscess ORPHA:67
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocholesterolemia, Abnorm... ORPHA:14
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Hypopigmentation of the skin, Generalized reticulate brown pigmentation, Hyperpi... ORPHA:79396
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Hepatosplenomegaly, Chorioretinal atrophy, Anemia, Hemolytic anemia OMIM:619487
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased circulating... ORPHA:37042
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Elevated c... ORPHA:36234
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Gene... OMIM:222470
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f... OMIM:251880
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Anemia, Increased circulating NT-proBNP concentration ORPHA:85443
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Hepatosplenomegaly, Leukopenia, Abnormality of retinal pigmentati... ORPHA:505248
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Rod-cone dystrophy, Thrombocytosis OMIM:212065
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Retinal detachment, Thrombocytopenia, B lymph... ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Hyperalaninemia, Chorioretinal hyperpigmentation OMIM:618329
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Secundum atrial septal defect, Decreased proportion... OMIM:611926
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Attenuation of retinal blood vessels OMIM:610965
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hyperpigmentation of the... ORPHA:186
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Optic atrophy, Hypopigmentation of the skin OMIM:251300
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Abnor... ORPHA:2298
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ... OMIM:277900
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Anemia, Refractory anemia ORPHA:79076
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Hy... OMIM:617052
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... OMIM:619381
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Thrombocytosis, Leukocytosis, Hypoalbuminemia ORPHA:2331
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly ORPHA:171
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Sp... OMIM:270400
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi... OMIM:242840
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Optic atrophy, Abnormal hemoglobin ORPHA:847
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, Double outlet right ventricle, Atrial septal d... OMIM:618223
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Agammaglobulinemia, X-Linked
Cor pulmonale, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia OMIM:607944
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Decreased proportion of naive T cells, Coombs-positive ... ORPHA:83471
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Alkaptonuria
Methemoglobinemia, Irregular hyperpigmentation, Hemolytic anemia, Abnormality of skin pigmentation ORPHA:56
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia OMIM:251260
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin, Photoreceptor layer loss on macular OCT, Impa... 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 Mmp11

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 Mmp11.

No publications found that use IMPC mice or data for Mmp11.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mmp11tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mmp11tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Mmp11tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mmp11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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