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Gene: Apcs MGI:98229

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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:
amyloid P component, serum
Synonyms:
Sap

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 Apcs 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 Apcs by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Renal insufficiency, Recurrent bacterial infections, Nephrotic syndrome, R... OMIM:613779
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... OMIM:614420
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Podocyte foot process ef... OMIM:615861
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits ORPHA:69063
C1Q Deficiency 1
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Recurrent i... OMIM:613652
C3 Glomerulopathy 3
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... OMIM:614809
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... OMIM:619201
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased ... OMIM:617006
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Glomerul... OMIM:619375
Focal Segmental Glomerulosclerosis 10
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... OMIM:256020
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Pneumonia OMIM:247800
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent herpes, Recurrent skin infections, Recurrent Kl... OMIM:614372
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Hepatomegaly, Recurrent lower respiratory tract infections, Anticardiolipin IgG ant... OMIM:615559
Immunodeficiency, Common Variable, 6
Hydronephrosis, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney dise... OMIM:613496
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... OMIM:615008
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Myeloma, Multiple
Amyloidosis OMIM:254500
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Autoimmunity, Acute kidney injury, Anti-d... ORPHA:567544
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 chr... OMIM:617609
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Recurrent i... OMIM:613913
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... OMIM:152700
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent streptococcus pneumoniae infections, Glomerulonephr... OMIM:610984
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Complement Factor H Deficiency
Chronic kidney disease, Thickened glomerular basement membrane, Recurrent bacterial infections, G... OMIM:609814
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Hepatic ste... OMIM:608709
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Nephrotic Syndrome, Type 6
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:614196
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Immunodeficiency 31A
BCGitis, Recurrent mycobacterium avium complex infections, Recurrent viral infections, Herpes sim... OMIM:614892
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Autoimmunity, Stage 5 chronic kidney disease, Chronic kidney di... ORPHA:329918
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Necrotizing enterocoliti... OMIM:613860
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Recurrent viral infection... OMIM:618999
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... ORPHA:70592
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... ORPHA:444463
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma... OMIM:619858
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen... OMIM:619263
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Hemolytic-uremic syndrome, Extrapu... OMIM:619644
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Glomerulonephriti... ORPHA:2137
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Rheumatoid factor positive, Antineutrophil antibody posit... ORPHA:99931
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Variant Abeta2M Amyloidosis
Cutaneous amyloidosis, Renal amyloidosis, Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis o... ORPHA:314652
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral... OMIM:608957
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent viral infections,... OMIM:611521
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Complement Component C1R/C1S Deficiency
Nephritis, Discoid lupus rash, Autoimmunity, Arthritis OMIM:216950
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Sple... OMIM:619437
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Proteinuria, Diffuse mesangial sclerosis, Chronic kidney disease, Stage 5 chronic ki... ORPHA:656
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Mesangial hypercellularity, Arthritis, Crescentic glomerulonephr... OMIM:616414
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Neutropenia, Erythroderma, Severe infect... OMIM:304790
Amyloidosis, Familial Visceral
Generalized amyloid deposition, Skin rash OMIM:105200
Idiopathic Trachyonychia
Autoimmune thrombocytopenia, Atopic dermatitis, Amyloidosis ORPHA:79153
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:620049
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent infection of the gastrointestinal tract, Autoimmune hemoly... OMIM:608184
Acys Amyloidosis
Cerebral amyloid angiopathy, Amyloidosis ORPHA:100008
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... ORPHA:37042
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Pgm3-Cdg
Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ... ORPHA:443811
Immunodeficiency, Common Variable, 2
Autoimmunity, Meningitis, Hepatomegaly, Recurrent bacterial infections, Follicular hyperplasia, R... OMIM:240500
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidne... ORPHA:567548
Complement Factor B Deficiency
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disease OMIM:615561
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Abnormal l... OMIM:609529
Nephrotic Syndrome, Type 20
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:301028
Nephrotic Syndrome, Type 18
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618178
Q Fever
Myocarditis, Maculopapular exanthema, Endocarditis, Lupus anticoagulant, Rheumatoid factor positi... ORPHA:781
Focal Segmental Glomerulosclerosis 8
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Palmoplantar Carcinoma, Multiple Self-Healing
Chronic rhinitis, Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Pauci-Immune Glomerulonephritis
Microscopic hematuria, Cytoplasmic antineutrophil antibody positivity, Proteinuria, Glomeruloneph... ORPHA:93126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent respiratory infections, Persistent CMV viremia, Aut... OMIM:618495
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Molluscum contagiosum, Rheumatoid factor posi... OMIM:615816
Periodic Fever, Familial, Autosomal Dominant
Maculopapular exanthema, Oligoarthritis, Skin rash, Erysipelas, Myositis, Hepatic amyloidosis, Co... OMIM:142680
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Inflammatory abnormality of the skin, Absent tonsils, Lymphopenia, Recurrent otitis... ORPHA:277
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... OMIM:301006
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:616730
Postinfectious Vasculitis
Persistent human papillomavirus infection, Inflammatory abnormality of the skin, Bacterial endoca... ORPHA:48435
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Hemolytic anemia, Leukemia,... OMIM:614470
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections, Osteomyelit... OMIM:615978
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Rheumatoid factor positive, Hepatomegaly, Colitis, Gastritis, Decreased proportion ... ORPHA:3261
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor positive, Ureteropelvic junct... ORPHA:49041
Immunodeficiency 7
Hypereosinophilia, Recurrent respiratory infections, Autoimmunity, Autoimmune hemolytic anemia, H... OMIM:615387
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
BCGosis, Severe toxoplasmosis, Lymphadenitis, Coccidioidomycosis, Salmonella osteomyelitis, Recur... ORPHA:319552
Thymoma
Glomerulonephritis, Autoimmunity, Aplastic anemia, Pure red cell aplasia, Leukemia, Anti-acetylch... ORPHA:99867
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Sepsis, Autoimmune hemolytic ... ORPHA:231154
Alport Syndrome 3, Autosomal Dominant
Microscopic hematuria, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocal... OMIM:104200
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... ORPHA:400
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... OMIM:616892
Focal Segmental Glomerulosclerosis 2
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... OMIM:603965
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Autoimmunity, Meningitis... ORPHA:229717
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Severe infection, Severe varicella zoster infection, Severe viral infec... ORPHA:36234
Combined Immunodeficiency Due To Zap70 Deficiency
Colitis, Chronic oral candidiasis, Hepatosplenomegaly, Recurrent bacterial skin infections, Lymph... ORPHA:911
Schimke Immuno-Osseous Dysplasia
Microscopic hematuria, Proteinuria, Decreased proportion of naive CD8 T cells, Autoimmunity, Stag... ORPHA:1830
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Recurrent viral infections, Hashimoto thyroiditis, Decreased proportion of CD3-posi... ORPHA:275
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614376
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... OMIM:618348
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... OMIM:615573
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Lymphatic Filariasis
Hypereosinophilia, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Knee osteoarthriti... ORPHA:2035
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Cernunnos-Xlf Deficiency
Autoimmunity, Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Th... ORPHA:169079
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Autoimmunity, Severe infection, Chronic oral candidi... ORPHA:83471
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Autoimmunity, Recurrent viral infections, Hemolytic anemia, Meningitis, Sep... ORPHA:169090
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... ORPHA:93109
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Autoimmunity, Chronic lymphati... OMIM:616005
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Anemia, Tubul... OMIM:613092
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Hypospadias OMIM:619428
Selective Igm Deficiency
Chronic sinusitis, Autoimmunity, Recurrent shingles, Decreased proportion of CD3-positive T cells... ORPHA:331235
Lysinuric Protein Intolerance
Oroticaciduria, Decreased glomerular filtration rate, Hyperlysinuria, Hemophagocytosis, Argininur... ORPHA:470
Igg4-Related Kidney Disease
Chronic sinusitis, Inflammatory abnormality of the skin, Enlarged kidney, Rheumatoid factor posit... ORPHA:449395
Familial Mediterranean Fever
Peritonitis, Orchitis, Renal amyloidosis, Erysipelas, Arthritis, Amyloidosis, Crohn's disease, Pe... OMIM:249100
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... OMIM:614377
Leukocyte Adhesion Deficiency
Peritonitis, Leukocytosis, Polycythemia, Chronic oral candidiasis, Recurrent fungal infections, P... ORPHA:2968
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmunity, Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive... ORPHA:572
Simple Cryoglobulinemia
Microscopic hematuria, Proteinuria, Abnormality of the kidney, Chronic lymphatic leukemia, Rheuma... ORPHA:91139
Felty Syndrome
Chronic otitis media, Autoimmunity, Hepatomegaly, Episcleritis, Synovitis, Recurrent infections, ... ORPHA:47612
Brucellosis
Myocarditis, Leukocytosis, Rheumatoid factor positive, Hepatomegaly, Intrarenal abscess, Sacroili... ORPHA:1304
Coenzyme Q10 Deficiency, Primary, 6
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... OMIM:614650
Lymphoproliferative Syndrome 1
Autoimmunity, Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmunity, Anemia, Skin rash, Autoimmune thrombocytopenia, A... ORPHA:100026
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal r... OMIM:137940
Cold Agglutinin Disease
Abnormal urinary color, Autoimmunity, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:56425
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Lymphadenopathy, Anterior u... ORPHA:85414
Aapoaiv Amyloidosis
Renal amyloidosis, Cardiac amyloidosis, Renal interstitial amyloid deposits, Cutaneous amyloidosis ORPHA:439232
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Recurrent pneumonia, Colitis, Cutaneous amyloidosis OMIM:301220
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Recurrent upper and lower respiratory tract infections, Abnormal B cell count... ORPHA:331206
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Granulomatosis, Impaired oxid... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Liver abscess, Granulomatosis, Impaired oxid... OMIM:233710
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Autoimmunity, Recurrent shingles, Recurrent lower respiratory tract infections... ORPHA:183675
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Systemic Sclerosis
Myocarditis, Proteinuria, Glomerulonephritis, Anti-centromere antibody positivity, Acute kidney i... ORPHA:90291
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolifera... ORPHA:251004
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Jaundice, Autoimmunity, Chronic lymphatic leukemia, Autoimmune hemolytic ... ORPHA:90033
Primary Sjögren Syndrome
Abnormality of the kidney, Chronic hepatitis, Chronic active hepatitis, Keratoconjunctivitis sicc... ORPHA:289390
Primary Sclerosing Cholangitis
Autoimmunity, Pancreatitis, Uveitis, Ulcerative colitis, Hepatitis, Amyloidosis, Thyroiditis ORPHA:171
Hemorrhagic Fever-Renal Syndrome
Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased urine output, Chronic kidney dise... ORPHA:340
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis OMIM:270150
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Hemophagocytosis, Anemia, Pancytopenia, Splenomegaly, Panniculitis OMIM:618398
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... ORPHA:567546
Pemphigus Erythematosus
Malar rash, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythem... ORPHA:79480
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Peritonitis OMIM:134610
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Renal amyloidosis, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Cytoplasmic antineutrophil antibody positivity, Glome... OMIM:233450
Autoimmune Polyendocrinopathy Type 4
Thymoma, Autoimmunity, Leukopenia, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the spleen... ORPHA:227990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Anem... OMIM:174000
Congenital Disorder Of Glycosylation, Type Iiw
Microscopic hematuria, Anemia, Bile duct proliferation, Moderate albuminuria, Prolonged neonatal ... OMIM:619525
Nail-Patella Syndrome
Proteinuria, Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Hematuria OMIM:161200
Autoimmune Polyendocrinopathy Type 3
Thymoma, Autoimmunity, Leukopenia, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the spleen... ORPHA:227982
Muckle-Wells Syndrome
Renal amyloidosis, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis OMIM:191900
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Acute kidney injury, Tubulointerstitial nephritis, Colitis, Hema... ORPHA:90068
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Glomerulonephritis, Chronic kidney disease, Anemia, Renal amyloido... ORPHA:79408
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Muckle-Wells Syndrome
Skin rash, Renal amyloidosis, Recurrent aphthous stomatitis, Uveitis, Arthritis, Episcleritis, Co... ORPHA:575
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Alström Syndrome
Urinary retention, Hepatomegaly, Hepatosplenomegaly, Recurrent urinary tract infections, Micropen... ORPHA:64
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis ORPHA:653
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451

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 Apcs

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 Apcs.

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

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MGI Allele Allele Type Produced
Apcsem2(IMPC)H Indel Mice
Apcsem1(IMPC)H Indel Mice
Apcstm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Apcstm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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