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, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Bullous Impetigo
Sepsis, Recurrent bacterial skin infections ORPHA:36237
Immunodeficiency 66
Sepsis OMIM:618847
Glycoprotein Storage Disease
Gout OMIM:232900
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Reticular Dysgenesis
Sepsis OMIM:267500
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Immunodeficiency 46
Sepsis, Chronic oral candidiasis, Recurrent sinopulmonary infections OMIM:616740
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Reticular Dysgenesis
Sepsis, Recurrent respiratory infections ORPHA:33355
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections ORPHA:204
Isolated Agammaglobulinemia
Sepsis, Recurrent cutaneous abscess formation, Recurrent respiratory infections ORPHA:229717
Lymphoproliferative Syndrome 2
Sepsis, Recurrent infections, Recurrent pneumonia OMIM:615122
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... ORPHA:169090
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis ORPHA:231154
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Hirschsprung Disease
Sepsis ORPHA:388
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent bacterial infections OMIM:612840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis ORPHA:289916
Neonatal Alloimmune Neutropenia
Sepsis ORPHA:464370
Autosomal Agammaglobulinemia
Sepsis, Recurrent infections, Recurrent respiratory infections ORPHA:33110
Felty Syndrome
Recurrent urinary tract infections, Recurrent infections, Recurrent pneumonia, Recurrent pharyngi... ORPHA:47612
Immunodeficiency 68
Sepsis OMIM:612260
Desmoid Tumor
Sepsis ORPHA:873
Calciphylaxis
Sepsis ORPHA:280062
Selective Igm Deficiency
Recurrent herpes, Recurrent bronchitis, Chronic oral candidiasis, Recurrent upper respiratory tra... ORPHA:331235
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Recurrent lower respiratory tra... OMIM:618986
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections OMIM:614739
Lamellar Ichthyosis
Sepsis, Recurrent respiratory infections ORPHA:313
Autoimmune Lymphoproliferative Syndrome, Type V
Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections OMIM:616100
X-Linked Agammaglobulinemia
Sepsis, Recurrent cutaneous abscess formation, Recurrent pneumonia ORPHA:47
Galactosemia
Sepsis ORPHA:352
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recur... ORPHA:293978
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Neonatal sepsis, Recurrent viral infections, Recurr... ORPHA:169154
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis ORPHA:544503
Pyomyositis
Recurrent cutaneous abscess formation, Sepsis, Recurrent infections ORPHA:764
Classic Galactosemia
Sepsis ORPHA:79239
Inhalational Anthrax
Sepsis ORPHA:247257
Infant Acute Respiratory Distress Syndrome
Sepsis ORPHA:70587
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Neonatal sepsis, Recurrent upper respiratory t... ORPHA:263501
Adult Acute Respiratory Distress Syndrome
Sepsis ORPHA:70578
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Rheuma... ORPHA:48377
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Recurrent sinusitis, Recurrent infections, Recurrent pneumonia, Sepsis, R... OMIM:614700
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Acute Lung Injury
Sepsis ORPHA:178320
Acquired Purpura Fulminans
Sepsis ORPHA:49566
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Autoimmunity, Rheumatoid arthritis, Uveitis, Knee osteoarthritis, Oligoarthr... ORPHA:85410
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent bronchopulmonary infections OMIM:617303
Immunodeficiency With Hyper-Igm, Type 1
Recurrent lower respiratory tract infections, Sepsis, Recurrent bacterial infections OMIM:308230
Meningococcal Meningitis
Sepsis ORPHA:33475
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Pericarditis, Lupus nephritis, Malar rash, Antiphospholi... OMIM:152700
Cyclic Neutropenia
Sepsis, Recurrent tonsillitis ORPHA:2686
Omenn Syndrome
Sepsis ORPHA:39041
Pgm3-Cdg
Recurrent fungal infections, Recurrent viral infections, Recurrent infections, Recurrent pneumoni... ORPHA:443811
Scedosporiosis
Sepsis ORPHA:449280
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Recurrent respiratory infections, Recurrent bacterial infections OMIM:612541
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Malar rash, Antinuclear antibody positivity, Arthritis OMIM:609939
Legionnaires Disease
Recurrent pharyngitis, Sepsis ORPHA:549
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Chronic Granulomatous Disease
Sepsis, Recurrent respiratory infections ORPHA:379
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections OMIM:617053
Secondary Short Bowel Syndrome
Sepsis ORPHA:95427
Congenital Enterovirus Infection
Sepsis ORPHA:292
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid art... ORPHA:275
Staphylococcal Necrotizing Pneumonia
Sepsis ORPHA:36238
Diverticulosis, Small-Intestinal
Thyroiditis, Rheumatoid arthritis, Ulcerative colitis OMIM:223320
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid ... OMIM:180300
Avian Influenza
Sepsis ORPHA:454836
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Iridocyclitis, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis ORPHA:247691
Radiation Proctitis
Sepsis ORPHA:70475
Bacterial Toxic-Shock Syndrome
Sepsis, Recurrent urinary tract infections ORPHA:36234
Immunodeficiency 59 And Hypoglycemia
Sepsis OMIM:233600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Recurrent infections, Recurrent respiratory infections, Recurrent gastroenteritis ORPHA:37042
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Recurrent respiratory infections, Recurrent gastroenteritis ORPHA:505248
Whim Syndrome
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract in... ORPHA:51636
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Pericarditis, Autoimmunity, Juvenile rheumatoid arthritis, Anterior uv... ORPHA:85414
Wiskott-Aldrich Syndrome
Recurrent herpes, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent... OMIM:301000
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Enthesitis, Psoriasiform dermatitis, Ant... OMIM:106300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Recurrent infections ORPHA:79396
Necrotizing Enterocolitis
Neonatal sepsis ORPHA:391673
Late-Onset Isolated Acth Deficiency
Sepsis ORPHA:199299
Chronic Bilirubin Encephalopathy
Neonatal sepsis ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis ORPHA:529799
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Sepsis ORPHA:2241
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
Sepsis, Recurrent viral infections, Recurrent bacterial infections ORPHA:811
Neuroleptic Malignant Syndrome
Sepsis ORPHA:94093
Cryptococcosis
Sepsis ORPHA:1546
Menkes Disease
Sepsis ORPHA:565
Rat-Bite Fever
Sepsis ORPHA:31205
Sepsis In Premature Infants
Neonatal sepsis ORPHA:90051
Microsporidiosis
Sepsis, Bronchiolitis ORPHA:2552
Currarino Syndrome
Sepsis, Recurrent urinary tract infections OMIM:176450
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis ORPHA:90790
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent fungal infections, Chronic oral candidiasis, Recurrent staphyloc... ORPHA:2968
Caroli Syndrome
Sepsis ORPHA:480520
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227990
Listeriosis
Sepsis ORPHA:533
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rh... ORPHA:100026
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227982
Ctcf-Related Neurodevelopmental Disorder
Recurrent lower respiratory tract infections, Sepsis, Recurrent infections ORPHA:363611
Wiskott-Aldrich Syndrome
Sepsis, Recurrent respiratory infections ORPHA:906
Severe Generalized Junctional Epidermolysis Bullosa
Sepsis, Recurrent urinary tract infections, Pyoderma ORPHA:79404
Myasthenia Gravis
Systemic lupus erythematosus, Muscle specific kinase antibody positivity, Rheumatoid arthritis, H... ORPHA:589
Nocardiosis
Sepsis ORPHA:31204
Ectodermal Dysplasia-Skin Fragility Syndrome
Sepsis, Recurrent pneumonia ORPHA:158668
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Joint swelling, Autoimmune thrombocytopenia, Autoimmunity, Recurren... OMIM:607944
Plague
Sepsis ORPHA:707
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Systemic lupus erythematosus, Antineutrophil antibod... ORPHA:49041
Hereditary Xanthinuria
Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Sepsis ORPHA:95455
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Rheumatoid arthritis, Granulomatous coronary arteritis, Iritis 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
Cfptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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