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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... 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
Glycoprotein Storage Disease
Gout OMIM:232900
Immunodeficiency 66
Sepsis OMIM:618847
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Reticular Dysgenesis
Sepsis OMIM:267500
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis OMIM:616740
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis ORPHA:50809
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... OMIM:105835
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Neonatal Alloimmune Neutropenia
Sepsis ORPHA:464370
Reticular Dysgenesis
Sepsis, Recurrent respiratory infections ORPHA:33355
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... OMIM:208250
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Isolated Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Recurrent cutaneous abscess formation ORPHA:229717
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections ORPHA:204
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Alg1-Cdg
Sepsis, Recurrent infections ORPHA:79327
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis ORPHA:231154
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Limitation of jo... ORPHA:1416
Lymphoproliferative Syndrome 2
Sepsis, Recurrent pneumonia, Recurrent infections OMIM:615122
Hirschsprung Disease
Sepsis ORPHA:388
Immunodeficiency 102
Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infection... OMIM:301082
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis ORPHA:289916
Autosomal Agammaglobulinemia
Sepsis, Recurrent infections, Recurrent respiratory infections ORPHA:33110
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Felty Syndrome
Sepsis, Recurrent urinary tract infections, Recurrent pharyngitis, Recurrent pneumonia, Recurrent... ORPHA:47612
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Immunodeficiency 68
Sepsis OMIM:612260
Desmoid Tumor
Sepsis ORPHA:873
Calciphylaxis
Sepsis ORPHA:280062
Thymic Aplasia
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... ORPHA:83471
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent lower respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, R... OMIM:618986
Lamellar Ichthyosis
Sepsis, Recurrent respiratory infections ORPHA:313
Galactosemia
Sepsis ORPHA:352
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections OMIM:614739
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis ORPHA:544503
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections OMIM:616100
Classic Galactosemia
Sepsis ORPHA:79239
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Recurrent upper respiratory tract infections, Recurrent lower respi... ORPHA:169154
X-Linked Agammaglobulinemia
Sepsis, Recurrent pneumonia, Recurrent cutaneous abscess formation ORPHA:47
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Chronic oral candidiasis, Recur... ORPHA:331235
Pyomyositis
Sepsis, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:764
Infant Acute Respiratory Distress Syndrome
Sepsis ORPHA:70587
Inhalational Anthrax
Sepsis ORPHA:247257
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent bronchitis, ... ORPHA:293978
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent tonsillitis, Sepsis, Recurrent urinary tract infections, Recurrent streptococcal infect... ORPHA:183675
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility ORPHA:399180
Cog4-Cdg
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... ORPHA:263501
Adult Acute Respiratory Distress Syndrome
Sepsis ORPHA:70578
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Acquired Purpura Fulminans
Sepsis ORPHA:49566
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive ORPHA:79099
Acute Lung Injury
Sepsis ORPHA:178320
Heme Oxygenase 1 Deficiency
Sepsis OMIM:614034
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Abnormality of the ankles, Uveitis, Autoimmunity, Knee oste... ORPHA:85410
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Recurrent sinusitis, Recurrent infections, Recurrent pneumonia, Recurrent otitis media, R... OMIM:614700
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Pyoderma, Sepsis, Recurrent urinary tract infections, Recur... OMIM:300755
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections OMIM:617303
Meningococcal Meningitis
Sepsis ORPHA:33475
Omenn Syndrome
Sepsis ORPHA:39041
Cyclic Neutropenia
Sepsis, Recurrent tonsillitis ORPHA:2686
Peroxisome Biogenesis Disorder 12A (Zellweger)
Sepsis OMIM:614886
Immunodeficiency With Hyper-Igm, Type 1
Recurrent lower respiratory tract infections, Recurrent bacterial infections, Sepsis, Chronic ora... OMIM:308230
Scedosporiosis
Sepsis ORPHA:449280
Pgm3-Cdg
Recurrent fungal infections, Sepsis, Recurrent bacterial infections, Recurrent infections, Recurr... ORPHA:443811
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... ORPHA:275
Secondary Short Bowel Syndrome
Sepsis ORPHA:95427
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Sepsis OMIM:619362
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Legionnaires Disease
Sepsis, Recurrent pharyngitis ORPHA:549
Chronic Granulomatous Disease
Sepsis, Recurrent respiratory infections ORPHA:379
Staphylococcal Necrotizing Pneumonia
Sepsis ORPHA:36238
Lassa Fever
Sepsis ORPHA:99824
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections OMIM:233600
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi... OMIM:612541
Congenital Enterovirus Infection
Sepsis ORPHA:292
Rheumatoid Arthritis
Joint stiffness, Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positi... OMIM:180300
Avian Influenza
Sepsis ORPHA:454836
Alg12-Cdg
Sepsis, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneumonia, Recurrent respirato... ORPHA:79324
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Sepsis, Recurrent upper respiratory tract infections 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
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmunity, Pericar... ORPHA:85414
Bacterial Toxic-Shock Syndrome
Sepsis, Recurrent urinary tract infections ORPHA:36234
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Sepsis, Recurrent infections, Recurrent respiratory infections ORPHA:37042
Whim Syndrome
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent upper respiratory tract in... ORPHA:51636
Kid Syndrome
Recurrent candida infections, Recurrent bacterial skin infections, Recurrent cutaneous fungal inf... ORPHA:477
Spondyloarthropathy, Susceptibility To, 1
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... OMIM:106300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Sepsis, Recurrent respiratory infections ORPHA:505248
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
Late-Onset Isolated Acth Deficiency
Sepsis ORPHA:199299
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Recurrent infections ORPHA:79396
Melioidosis
Sepsis ORPHA:31202
Shigellosis
Sepsis ORPHA:810
Stevens-Johnson Syndrome
Sepsis, Recurrent respiratory infections ORPHA:36426
Toxic Epidermal Necrolysis
Sepsis, Recurrent respiratory infections ORPHA:537
Shwachman-Diamond Syndrome
Recurrent viral infections, Sepsis, Recurrent bacterial infections ORPHA:811
Wiskott-Aldrich Syndrome
Sepsis, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infection... OMIM:301000
Neuroleptic Malignant Syndrome
Sepsis ORPHA:94093
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infections OMIM:619573
Currarino Syndrome
Sepsis, Recurrent urinary tract infections OMIM:176450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Sepsis OMIM:619418
Rat-Bite Fever
Sepsis ORPHA:31205
Menkes Disease
Sepsis ORPHA:565
Sepsis In Premature Infants
Neonatal sepsis ORPHA:90051
Gamma-Heavy Chain Disease
Skin rash, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmunity, Autoimmun... ORPHA:100026
Wiskott-Aldrich Syndrome
Sepsis, Recurrent respiratory infections ORPHA:906
Cryptococcosis
Sepsis ORPHA:1546
Listeriosis
Sepsis ORPHA:533
Microsporidiosis
Bronchiolitis, Sepsis ORPHA:2552
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Antiphospholipid antibody positivity, Osteopenia, Rheumatoid arthritis, Autoimmune... ORPHA:227990
Myasthenia Gravis
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... ORPHA:589
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis ORPHA:90790
Caroli Syndrome
Sepsis ORPHA:480520
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Recurrent tonsillitis, Sepsis, Recurrent u... ORPHA:2968
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Myositis, Autoimmunity, Decreased circulating... ORPHA:99867
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Antiphospholipid antibody positivity, Osteopenia, Rheumatoid arthritis, Autoimmune... ORPHA:227982
Ectodermal Dysplasia-Skin Fragility Syndrome
Sepsis, Recurrent pneumonia ORPHA:158668
Severe Generalized Junctional Epidermolysis Bullosa
Sepsis, Recurrent urinary tract infections, Pyoderma ORPHA:79404
Ctcf-Related Neurodevelopmental Disorder
Recurrent lower respiratory tract infections, Sepsis, Recurrent infections ORPHA:363611
Overlap Myositis
Systemic lupus erythematosus, Subluxation of the small joints of the hand, Rheumatoid arthritis, ... ORPHA:206572
Nocardiosis
Sepsis ORPHA:31204
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Sclerosis of skull base, Systemic lupus erythematosus, Juvenile rheumatoid arthri... OMIM:607944
Liver Disease, Severe Congenital
Sepsis, Recurrent urinary tract infections, Recurrent otitis media OMIM:619991
Lymphoid Interstitial Pneumonia
Skin rash, Rheumatoid arthritis, Eczema, Autoimmune antibody positivity, Autoimmunity, Bronchiect... ORPHA:79128
Igg4-Related Retroperitoneal Fibrosis
Systemic lupus erythematosus, Deep dermal perivascular inflammatory infiltrate, Smooth muscle ant... 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
Sepsis, Recurrent pneumonia ORPHA:99646
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Iritis, Rheumatoid arthritis, Granulomatous coronary arteritis OMIM:108050
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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