Gene Summary

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

IMPC Data Collections

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.

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

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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

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

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
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia 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
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Melanocytic nevus ORPHA:3319
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... OMIM:620632
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... OMIM:209950
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,... ORPHA:507
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... 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
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... ORPHA:158061
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Thrombocyt... OMIM:619644
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Diarrhea 13
Hypoalbuminemia OMIM:620357
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... OMIM:617021
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia OMIM:619013
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
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
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... ORPHA:292
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Thrombocytopenia, Elevated circulating creatinine concentration, Anemia OMIM:608104
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin OMIM:617575
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... ORPHA:540
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Splenomegaly, Decreased proporti... OMIM:615513
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Intraalveolar... OMIM:620565
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,... OMIM:616959
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... ORPHA:1667
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Anemia, Chorioretinal hypopigmentation, Thrombocytopenia, Leukopenia, Splenomegaly... OMIM:617303
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Anemia, Leukocytosis, Hypoalbuminemia 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
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... ORPHA:848
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubinemia, Abnorma... ORPHA:14
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Irregular hyperpigmentation, Anemia, Decreased circulating carnitine concentration, Decreased cir... ORPHA:89842
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hyperpigmentation of the skin, Hypopigmentation of the skin, Generalized reticulate brown... ORPHA:79396
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Aicardi-Goutieres Syndrome 9
Optic atrophy, Anemia, Chorioretinal atrophy, Hepatosplenomegaly, Hypoalbuminemia, Hemolytic anemia OMIM:619487
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Generalized hypopigmentation, Hypergalactosemia, Cafe-au-lait sp... OMIM:222470
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Al Amyloidosis
Howell-Jolly bodies, Hypoalbuminemia, Anemia, Increased circulating NT-proBNP concentration ORPHA:85443
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Anemia, Abnormality of retinal pigmentation, Thrombocytopenia, Leukopenia, Hepatos... ORPHA:505248
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Rod-cone dystrophy OMIM:212065
Alg12-Cdg
Retinal detachment, B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypochole... ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Chorioretinal hyperpigmentation OMIM:618329
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Secundum atrial septal defect, Decreased pro... OMIM:611926
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... ORPHA:231222
Xfe Progeroid Syndrome
Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels OMIM:610965
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hyperpigmentation of the skin, Splenomegaly, Conjugated... ORPHA:186
Galloway-Mowat Syndrome 1
Optic atrophy, Hypoalbuminemia, Hypopigmentation of the skin OMIM:251300
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Thrombocytopenia, Leukopenia, Abno... ORPHA:2298
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro... OMIM:277900
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating transferrin conc... ORPHA:90363
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Hyperamylasem... ORPHA:99826
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hyperpigmentation of the skin, De... ORPHA:231226
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Refractory anemia, Anemia ORPHA:79076
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Pericardial effusion, Decrea... OMIM:613011
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hyperpigment... ORPHA:231214
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:572
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia, Increased mean ... OMIM:617052
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Immunodeficiency 82 With Systemic Inflammation
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... 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
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Hepatosplenomegaly, Decreased ... OMIM:606367
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Kawasaki Disease
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2331
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... ORPHA:79124
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly ORPHA:171
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Sp... OMIM:270400
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Vici Syndrome
Cardiomyopathy, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cel... OMIM:242840
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin ORPHA:847
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... ORPHA:508533
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, T lymphocytopenia, Pulmonic stenosis, Aplasia of the thymus, Double o... OMIM:618223
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... OMIM:208900
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Cor pulmonale, Neutropenia OMIM:300755
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul... OMIM:619534
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, T... ORPHA:83471
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Alkaptonuria
Irregular hyperpigmentation, Abnormality of skin pigmentation, Hemolytic anemia, Methemoglobinemia ORPHA:56
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia OMIM:251260
Pmm2-Cdg
Photoreceptor layer loss on macular OCT, Reduced thyroxin-binding globulin, Hypoalbuminemia, 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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