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Gene: Cfp MGI:97545

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
complement factor properdin
Synonyms:
Pfc

Order Alleles

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cfp 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.

The table below shows human diseases associated to Cfp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Properdin Deficiency, X-Linked
OMIM:312060

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis ORPHA:36237
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Glycoprotein Storage Disease
Gout OMIM:232900
Immunodeficiency 66
Sepsis OMIM:618847
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Chronic oral candidiasis OMIM:616740
Reticular Dysgenesis
Sepsis OMIM:267500
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... OMIM:614868
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Neonatal Alloimmune Neutropenia
Sepsis ORPHA:464370
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis ORPHA:33355
C1Q Deficiency 2
Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis OMIM:620321
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sepsis ORPHA:229717
Alg1-Cdg
Sepsis, Recurrent infections ORPHA:79327
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections ORPHA:204
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Severe recurrent varicella, Recurrent opportunistic infectio... ORPHA:276
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis ORPHA:231154
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Hirschsprung Disease
Sepsis ORPHA:388
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, Recurrent infections OMIM:615122
Immunodeficiency 102
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsi... OMIM:301082
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis ORPHA:289916
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections ORPHA:33110
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Recu... ORPHA:47612
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Immunodeficiency 68
Sepsis OMIM:612260
Desmoid Tumor
Sepsis ORPHA:873
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sepsis, Recurrent candida infections, Recurrent infections, R... ORPHA:83471
Calciphylaxis
Sepsis ORPHA:280062
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent sinusitis, Recurrent oti... OMIM:618986
Lamellar Ichthyosis
Recurrent respiratory infections, Sepsis ORPHA:313
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections OMIM:614739
Netherton Syndrome
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Sepsis OMIM:256500
Cog4-Cdg
Neonatal sepsis, Recurrent upper respiratory tract infections, Recurrent infection of the gastroi... ORPHA:263501
Classic Galactosemia
Sepsis ORPHA:79239
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis ORPHA:544503
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis ORPHA:47
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsis OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Recurrent viral infections, Recurrent upper respiratory tract infections, Recurr... ORPHA:169154
Inhalational Anthrax
Sepsis ORPHA:247257
Infant Acute Respiratory Distress Syndrome
Sepsis ORPHA:70587
Pyomyositis
Recurrent cutaneous abscess formation, Sepsis, Recurrent infections ORPHA:764
Selective Igm Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent staphylococcal in... ORPHA:331235
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Adult Acute Respiratory Distress Syndrome
Sepsis ORPHA:70578
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Acquired Purpura Fulminans
Sepsis ORPHA:49566
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent upper respiratory... ORPHA:183675
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsi... ORPHA:436159
Acute Lung Injury
Sepsis ORPHA:178320
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... ORPHA:85410
Heme Oxygenase 1 Deficiency
Sepsis OMIM:614034
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent infections, Recurrent si... OMIM:614700
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Sepsis, Chronic ora... OMIM:308230
Meningococcal Meningitis
Sepsis ORPHA:33475
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Sepsis OMIM:617303
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Peroxisome Biogenesis Disorder 12A (Zellweger)
Sepsis OMIM:614886
Cyclic Neutropenia
Recurrent tonsillitis, Sepsis ORPHA:2686
Omenn Syndrome
Sepsis ORPHA:39041
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Pgm3-Cdg
Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr... ORPHA:443811
Scedosporiosis
Sepsis ORPHA:449280
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ... ORPHA:293978
Secondary Short Bowel Syndrome
Sepsis ORPHA:95427
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Sepsis OMIM:619362
Lassa Fever
Sepsis ORPHA:99824
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Staphylococcal Necrotizing Pneumonia
Sepsis ORPHA:36238
Legionnaires Disease
Recurrent pharyngitis, Sepsis ORPHA:549
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsis OMIM:233600
Chronic Granulomatous Disease
Recurrent respiratory infections, Sepsis ORPHA:379
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Congenital Enterovirus Infection
Sepsis ORPHA:292
Avian Influenza
Sepsis ORPHA:454836
Alg12-Cdg
Recurrent respiratory infections, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneu... ORPHA:79324
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Sepsis OMIM:602450
Ebola Hemorrhagic Fever
Sepsis ORPHA:319218
Radiation Proctitis
Sepsis ORPHA:70475
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis ORPHA:247691
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... ORPHA:85414
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Sepsis ORPHA:36234
Generalized Pustular Psoriasis
Sepsis ORPHA:247353
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Sepsis, Recurrent gastroenteritis, Recurrent infections ORPHA:37042
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sepsis, Recurrent cut... ORPHA:477
Whim Syndrome
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Sepsis, Recurrent p... ORPHA:51636
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Sepsis, Recurrent gastroenteritis ORPHA:505248
Late-Onset Isolated Acth Deficiency
Sepsis ORPHA:199299
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Sepsis ORPHA:2241
Necrotizing Enterocolitis
Neonatal sepsis ORPHA:391673
Chronic Bilirubin Encephalopathy
Neonatal sepsis ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis ORPHA:529799
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Recurrent infections ORPHA:79396
Stevens-Johnson Syndrome
Recurrent respiratory infections, Sepsis ORPHA:36426
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Sepsis ORPHA:537
Melioidosis
Sepsis ORPHA:31202
Shigellosis
Sepsis ORPHA:810
Shwachman-Diamond Syndrome
Recurrent bacterial infections, Sepsis, Recurrent viral infections ORPHA:811
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Recurrent fungal infections, Sepsis, Recurrent viral infections OMIM:619573
Currarino Syndrome
Recurrent urinary tract infections, Sepsis OMIM:176450
Neuroleptic Malignant Syndrome
Sepsis ORPHA:94093
Wiskott-Aldrich Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent sinusitis, R... OMIM:301000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Sepsis OMIM:619418
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... ORPHA:100026
Sepsis In Premature Infants
Neonatal sepsis ORPHA:90051
Cryptococcosis
Sepsis ORPHA:1546
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sepsis ORPHA:906
Rat-Bite Fever
Sepsis ORPHA:31205
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227990
Menkes Disease
Sepsis ORPHA:565
Microsporidiosis
Bronchiolitis, Sepsis ORPHA:2552
Listeriosis
Sepsis ORPHA:533
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis ORPHA:90790
Thymoma
Myositis, Autoimmunity, Glomerulonephritis, Anti-acetylcholine receptor antibody positivity, Ulce... ORPHA:99867
Myasthenia Gravis
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... ORPHA:589
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... ORPHA:227982
Caroli Syndrome
Sepsis ORPHA:480520
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Pyoderma, Sepsis ORPHA:79404
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Sepsis ORPHA:158668
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Ctcf-Related Neurodevelopmental Disorder
Recurrent lower respiratory tract infections, Sepsis, Recurrent infections ORPHA:363611
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Recurrent staphylococcal infections, Recurrent tonsillitis, S... ORPHA:2968
Nocardiosis
Sepsis ORPHA:31204
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... OMIM:607944
Liver Disease, Severe Congenital
Recurrent otitis media, Recurrent urinary tract infections, Sepsis OMIM:619991
Lymphoid Interstitial Pneumonia
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt... ORPHA:49041
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Sepsis ORPHA:95455
Plague
Sepsis ORPHA:707
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Sepsis ORPHA:99646
Properdin Deficiency, X-Linked
OMIM:312060

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 Cfp

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 Cfp.

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

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MGI Allele Allele Type Produced
Cfptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cfpem1(IMPC)H Exon Deletion Mice
Cfptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cfptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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