Gene Summary

Name:
matrix metallopeptidase 8
Synonyms:
Collagenase-2

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
increased heart weight Mmp8tm1.1(KOMP)Vlcg HOM Early adult 7.22×10-11
decreased circulating free fatty acids level Mmp8tm1.1(KOMP)Vlcg HOM   Early adult 6.99×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 50% (1 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Hypothalamus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Section

10 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Human diseases caused by Mmp8 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 Mmp8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
Ficolin 3 Deficiency
Verrucae, Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing ... OMIM:613860
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Immunodeficiency 61
Recurrent bacterial infections, Recurrent otitis media, Arthritis, Recurrent respiratory infectio... OMIM:300310
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, B-cell lymphoma, Persistent EBV viremia OMIM:619437
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Verrucae, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Recurre... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Myelodysplasia... OMIM:608184
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent otitis media, ... OMIM:612692
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Acquired Ichthyosis
Multiple myeloma, Neoplasm, Lymphoma, Sarcoma, Recurrent skin infections ORPHA:454
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, R... OMIM:613502
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Verrucae, Chronic oral candid... ORPHA:275
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Squa... OMIM:613736
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... OMIM:611521
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Neo... OMIM:240500
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Recurrent bacterial infections, Pneumonia, Bronchiectasis, Recurrent otitis media, Cro... OMIM:601495
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Whim Syndrome 1
Recurrent bacterial infections, Verrucae, Recurrent upper respiratory tract infections, Bronchiec... OMIM:193670
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Progressive Osseous Heteroplasia
Sarcoma, Osteoarthritis ORPHA:2762
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Myelodysplasia OMIM:610738
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Neoplasm of the adrenal cortex,... ORPHA:163634
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Chondrosarcoma, Neoplasm, Sarcoma, Multiple ench... ORPHA:296
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis OMIM:613779
Selective Igm Deficiency
Sepsis, Thyroid carcinoma, Non-infectious meningitis, Severe varicella zoster infection, Recurren... ORPHA:331235
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... OMIM:613493
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Sepsis, Recurrent herpes, Recurrent infections, Recurrent respiratory infections, Al... ORPHA:183675
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Anal canal squamous carcinoma, Verrucae, Chronic otitis media, Recu... ORPHA:217390
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis OMIM:242850
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, B-cell lymphoma, Recu... OMIM:616005
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Acute lymphoblastic leukemia OMIM:616873
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Infectious encephalitis, Recurrent protozoan infecti... OMIM:209920
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Biliary tract neoplasm, Neoplasm, Sarc... ORPHA:662
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... ORPHA:169090
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Lymphoprol... ORPHA:276
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Sepsis, Recurrent bacterial infections, Recurrent infection of ... ORPHA:83471
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Immunodeficiency 21
Myelodysplasia, Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium ... OMIM:614172
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Rec... ORPHA:572
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Pneumonia, Bronchiectasis, Recurrent bronchitis, Recurrent otitis... OMIM:607594
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Acute monocytic leukemia OMIM:202700
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Neoplasm, Sarcoma ORPHA:626
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Infantile Myofibromatosis
Neoplasm of the skin, Neoplasm of the lung, Neoplasm of the pancreas, Fibroma, Sarcoma, Benign ne... ORPHA:2591
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor, Neoplasm of the stoma... ORPHA:44890
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Myelodysplasia, Recurrent otitis media, Recurrent pneumonia OMIM:617475
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... OMIM:147060
Liposarcoma
Sarcoma ORPHA:69078
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the central nervous system, Neoplasm of the liver ORPHA:69077
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233710
Immunodeficiency 10
Recurrent bacterial infections, Kaposi's sarcoma, Recurrent infections OMIM:612783
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Recurre... OMIM:613179
Whim Syndrome
Cutaneous melanoma, Sinusitis, Sepsis, Recurrent bacterial infections, Cervix cancer, Pneumonia, ... ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:306400
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the central nervous system, Neoplasm of the p... ORPHA:83469
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Cheilitis Glandularis
Cheilitis, Squamous cell carcinoma, Carcinoma OMIM:118330
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Desmoid Tumor
Neoplasm of the skin, Sepsis, Desmoid tumors, Fibroma, Intestinal polyposis ORPHA:873
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Glomerulonephritis, Recurrent respiratory infections OMIM:613496
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis ORPHA:314478
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Osteomyelitis, Periodontitis, Recurrent staphylococcal infections... OMIM:116920
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Episcleritis, Arthritis, Lymphoma, Meningitis, Uveitis, Inflammat... ORPHA:36412
Omenn Syndrome
Recurrent bacterial infections, Erythroderma, Pneumonia, Recurrent fungal infections, Recurrent v... OMIM:603554
Pgm3-Cdg
Atopic dermatitis, Sepsis, Eczema, Allergic rhinitis, Recurrent bacterial infections, Bronchiecta... ORPHA:443811
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Milroy Disease
Neoplasm of the skin, Erysipelas, Angiosarcoma ORPHA:79452
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Severe varicella zoster infectio... OMIM:606367
Chromomycosis
Multiple cutaneous malignancies, Recurrent bacterial infections, Keratoconjunctivitis sicca, Kera... ORPHA:182
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections OMIM:612840
Immunodeficiency 23
Eczema, Allergic rhinitis, Severe varicella zoster infection, Hodgkin lymphoma, Bronchiectasis, C... OMIM:615816
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ... ORPHA:60033
Werner Syndrome
Cutaneous melanoma, Ovarian neoplasm, Thyroid carcinoma, Meningioma, Neoplasm of the lung, Acral ... ORPHA:902
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Neurofibromatosis, Type I
Pheochromocytoma, Astrocytoma, Plexiform neurofibroma, Meningioma, Rhabdomyosarcoma, Spinal neuro... OMIM:162200
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Conjunctiv... ORPHA:2968
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Retinoblastoma
Rhabdomyosarcoma, Leukemia, Leiomyosarcoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Uveitis, Retin... ORPHA:790
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Lymphadenitis, Recurrent fungal infections, Recurrent viral infec... ORPHA:331206
Retinoblastoma
Leukemia, Lymphoma, Osteosarcoma, Pinealoma, Retinoblastoma, Ewing sarcoma OMIM:180200
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Angiosarcoma ORPHA:90186
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Osteomyelitis leading to amputation due to slow healing fractures, Hi... OMIM:112250
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Stomatitis, Hepatitis, Recurrent lower respiratory tract ... OMIM:308230
Tuberous Sclerosis 2
Subungual fibromas, Cardiac rhabdomyoma, Astrocytoma, Ependymoma, Optic nerve glioma, Renal cell ... OMIM:613254
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Fibrosarcoma, Recurrent urinary tract infections, Recurrent skin in... ORPHA:33001
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Pituitary adenoma, Carcinoid tumor, Renal angiomyolipoma, ... OMIM:610755
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Persistent human papillomavirus inf... ORPHA:48435
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Plexiform neurofibroma, Spinal neurofibromas, Optic nerve glioma, Lisch nodules, Subcutaneous neu... OMIM:613675
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent bacterial infections, Pneumonia, Recurrent fungal infections, Recurrent vira... OMIM:102700
Tropical Calcific Pancreatitis
Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland, Testicular neoplasm ORPHA:457059
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Myelodysplasia, Recurrent urinary tract infections, Aspir... OMIM:617053
Mastocytosis
Sarcoma, Chronic leukemia, Acute leukemia ORPHA:98292
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Diffuse leiomyomatosis, Keratitis, Fibroma, Vaginal neoplasm, Tracheobronchi... ORPHA:1018
Monosomy 22
Meningioma, Gonadal neoplasm, Seborrheic dermatitis, Sarcoma, Schwannoma ORPHA:96123
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Recurren... ORPHA:221139
Multiple Endocrine Neoplasia Type 4
Insulinoma, Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Neur... ORPHA:276152
Glycogen Storage Disease Ib
Recurrent bacterial infections, Gout, Pancreatitis, Hepatocellular carcinoma OMIM:232220
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Primary Ciliary Dyskinesia
Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent sinopulmonary infections, Chron... ORPHA:244
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Recurrent bacterial infections, Myelodysplasia, Pneumonia, Leukemia, R... ORPHA:811
Neurofibromatosis Type 1
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Spinal neurofibromas, Neop... ORPHA:636
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... OMIM:608233
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Chronic ... OMIM:242840
17Q11 Microdeletion Syndrome
Pheochromocytoma, Myelodysplasia, Gastrointestinal stroma tumor, Rhabdomyosarcoma, Plexiform neur... ORPHA:97685
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Cowden Syndrome
Cavernous hemangioma, Neoplasm of the skin, Colorectal polyposis, Neoplasm of the central nervous... ORPHA:201
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection OMIM:300291
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Spinal neurofibromas, Optic nerve glioma, Subcutaneous neurofibromas, Hemangioma, Lisc... ORPHA:363700
Ch├ędiak-Higashi Syndrome
Recurrent bacterial infections, Recurrent infections, Periodontitis, Recurrent bacterial skin inf... ORPHA:167
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Hodgkin lymphoma, Recurrent fungal infections, Recurrent ... OMIM:619573
Hyperparathyroidism-Jaw Tumor Syndrome
Thyroid carcinoma, Uterine leiomyoma, Pancreatic adenocarcinoma, Pancreatitis, Renal hamartoma, F... ORPHA:99880
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Inflammation of the large intestine, Hepatocellular carcinoma, Go... ORPHA:79259
Parathyroid Carcinoma
Thyroid carcinoma, Parathyroid carcinoma, Uterine leiomyoma, Pancreatic adenocarcinoma, Pancreati... ORPHA:143
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Recurrent respiratory infections OMIM:612541
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyog... OMIM:214500
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Aicardi Syndrome
Carcinoma, Hemangioma, Hepatoblastoma, Lipoma, Metastatic angiosarcoma, Recurrent pneumonia, Tera... OMIM:304050
Noonan Syndrome 1
Neurofibrosarcoma, Synovitis, Juvenile myelomonocytic leukemia OMIM:163950
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Pancreatic endocrine tumor, Pheochromocytoma, Renal cell carcinoma, Subepend... ORPHA:805
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Eczema, Episcleritis, Cheilitis, Recurrent infections, Keratitis,... ORPHA:2273
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Meningioma, Gingival fibromatosis, Insulinoma, Intestinal carcinoid, Pituitary... ORPHA:652
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Lysinuric Protein Intolerance
Recurrent bacterial infections, Tubulointerstitial nephritis, Membranous nephropathy, Pancreatiti... ORPHA:470
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Fasciitis, Septic arthritis, Osteomyelitis, Recurrent Staphylococ... ORPHA:642

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 Mmp8

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 Mmp8.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Mmp8tm1(KOMP)Vlcg Mmp8tm1.1(KOMP)Vlcg PMC5503261

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MGI Allele Allele Type Produced
Mmp8tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Mmp8tm209418(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mmp8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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