Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cathelicidin antimicrobial peptide
Synonyms:
CAP18,  FALL39,  Cramp,  MCLP,  Cnlp

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 Camp 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 Camp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... OMIM:614372
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Tuftsin Deficiency
Recurrent infections OMIM:191150
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho... OMIM:300988
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... ORPHA:2688
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... OMIM:193670
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na... OMIM:615214
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ... OMIM:612692
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... OMIM:614172
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... OMIM:607676
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... OMIM:616740
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ... ORPHA:169079
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia OMIM:616873
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Post-vaccination polio, B lymphocytopenia, Recurrent infections OMIM:616941
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... OMIM:300310
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Liver absce... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Liver absce... OMIM:233710
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Recurrent bacterial infections, Absent circulating B cells, Eczematoid der... OMIM:619693
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis... OMIM:240500
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Liver absce... OMIM:233690
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Recurrent bac... OMIM:601495
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Ski... ORPHA:276
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut... OMIM:147060
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasi... OMIM:616005
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... OMIM:619281
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... OMIM:612840
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... ORPHA:331206
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... ORPHA:169090
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pneumonia, Pure red c... OMIM:613179
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Severe varicella zoster infection, Splenomegaly, Recurrent pneumon... OMIM:615122
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu... OMIM:615468
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Autoimmune ... OMIM:613496
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... OMIM:619707
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Increased T cell count, Se... ORPHA:98813
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... OMIM:615387
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion... OMIM:606367
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent abscess formation... OMIM:260570
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Liver absce... OMIM:306400
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect... OMIM:618048
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased... ORPHA:169154
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Neutropenia, Sepsis, Hepatitis, Chronic hepatit... OMIM:308230
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ecz... OMIM:615816
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... OMIM:301078
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... OMIM:102700
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... ORPHA:75564
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Meningitis, Anemia OMIM:607115
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... ORPHA:47612
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Hepato... OMIM:612541
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Splenomegaly, Uveitis, Inflammatory abnormality of the eye, Recurrent ba... ORPHA:36412
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Gout, Recurrent infections OMIM:617056
Idiopathic Bronchiectasis
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... ORPHA:60033
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, BCGosis, Recurre... OMIM:619644
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... OMIM:258360
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... OMIM:300755
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... OMIM:608233
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Invasive fungal in... ORPHA:158048
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti... ORPHA:167
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, Optic neuritis, B ... OMIM:301081
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... OMIM:304790
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Recurrent pharyngitis, Myocarditis, Leukocytosis, Splenome... ORPHA:829
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Neutropenia, Anemia ORPHA:88
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu... OMIM:617053
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Sepsis, Increased circulating ... ORPHA:36234
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ear infections, Recurrent ... ORPHA:221139
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Inflammation o... OMIM:615895
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Recurrent infections, Neutropenia... OMIM:617827
Pneumocystosis
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti... ORPHA:723
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Generalized Pustular Psoriasis
Pustule, Leukocytosis, Sepsis, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosis, Erythroder... ORPHA:247353
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,... ORPHA:244
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Recurrent infections, Hepatos... OMIM:260920
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... ORPHA:293173
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Glycogen Storage Disease Ib
Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Neutrope... OMIM:232220
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Severe infection, Leukocytosis, Sepsis, Acute infectious pneumonia, Leuk... ORPHA:36238
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... OMIM:242840
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis, Keratoconjunc... OMIM:617388
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Recurrent pharyngitis, Peritonitis, Leuko... ORPHA:32960
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes OMIM:248500
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Recurrent bacterial infe... OMIM:300972
Shigellosis
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Sepsis, Uveitis, Ul... ORPHA:810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recurrent bacterial in... ORPHA:79259
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Erysipelas, Arthri... OMIM:249100
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Antiphospholipid Syndrome, Familial
Keratitis, Scleritis, Iritis, Autoimmune thrombocytopenia OMIM:107320
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Meningitis, Seve... ORPHA:31204
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Neutrop... ORPHA:99843
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Stomatitis OMIM:612852
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells OMIM:617099
Juvenile Xanthogranuloma
Iritis, Blepharitis, Myeloproliferative disorder, Uveitis ORPHA:158000
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis... ORPHA:171
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... OMIM:186580
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Lysinuric Protein Intolerance
Glomerulonephritis, Thrombocytopenia, Hepatosplenomegaly, Recurrent bacterial infections, Tubuloi... ORPHA:470
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholangitis, Eosinophilia, Thrombocyt... ORPHA:3260
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Recurrent Staphylococcus aureus infections, Septic arthritis, ... ORPHA:642
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Opportunistic infection, Thrombocytopenia ORPHA:99829

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 Camp

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 Camp.

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

Title Journal IMPC Allele PubMed ID
The antimicrobial peptide cathelicidin drives development of experimental autoimmune encephalomyelitis in mice by affecting Th17 differentiation. PLoS biology (August 2022) Camptm1a(EUCOMM)Hmgu PMC9455863

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Camptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Camptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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