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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
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Recurrent i... OMIM:613652
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... 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
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic... OMIM:613913
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Complement Factor H Deficiency
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Recurrent bacterial in... OMIM:609814
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic... OMIM:608709
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... OMIM:619858
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo... OMIM:619644
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, Gl... ORPHA:2137
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au... ORPHA:99931
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis OMIM:216950
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... OMIM:608957
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Severe i... OMIM:304790
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Amyloidosis, Familial Visceral
Skin rash, Generalized amyloid deposition OMIM:105200
Idiopathic Trachyonychia
Amyloidosis, Atopic dermatitis, Autoimmune thrombocytopenia ORPHA:79153
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... OMIM:608184
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Sepsis, Tubulointerstitial nephritis, Iron... ORPHA:37042
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Pgm3-Cdg
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopeni... ORPHA:443811
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiect... OMIM:240500
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, 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, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis, Chronic rhinitis OMIM:615225
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Rheumatoid factor positive, Anti... ORPHA:781
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Rhe... OMIM:615816
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... ORPHA:277
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Periodic Fever, Familial, Autosomal Dominant
Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, AA amyloidosis, Hepatic amyloidosis... OMIM:142680
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Postinfectious Vasculitis
Rheumatoid factor positive, Severe varicella zoster infection, Recurrent candida infections, Gast... ORPHA:48435
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Aut... OMIM:614470
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated pro... ORPHA:3261
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmunity, Severe... OMIM:615387
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... ORPHA:49041
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent... ORPHA:397596
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Pure red cell aplasia, Anti-acetylch... ORPHA:99867
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au... ORPHA:229717
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Invasive parasitic infection, Unusual infection, He... ORPHA:400
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Sepsis, Increased circulating ... ORPHA:36234
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Thrombocytopenia, Stag... ORPHA:1830
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... ORPHA:275
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Opportunistic bacterial inf... ORPHA:2035
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Cernunnos-Xlf Deficiency
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lym... ORPHA:169079
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Recurrent viral infections, Recurrent my... ORPHA:169090
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections,... OMIM:616005
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py... ORPHA:449395
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ... OMIM:603909
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H... ORPHA:470
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Hepatic cysts, Glomerular subepithelial immune-complex de... OMIM:614377
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Arthritis, Amyloidosis, Renal amyloidosis, Crohn's disease, ... OMIM:249100
Brucellosis
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Leukopenia, Abnormality of the li... ORPHA:1304
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Rheu... ORPHA:91139
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun... ORPHA:100026
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis ORPHA:439232
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... ORPHA:85414
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Cutaneous amyloidosis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Abnormal T cell count, Abnormal B cell count, Autoimmu... ORPHA:331206
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces... OMIM:233710
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Os... ORPHA:90291
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, System... ORPHA:90033
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Primary Sclerosing Cholangitis
Autoimmunity, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Amyloidosis, Pancreatitis ORPHA:171
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopenia, Severe infection, Chronic k... ORPHA:340
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis OMIM:120100
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia,... OMIM:619525
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Muckle-Wells Syndrome
Conjunctivitis, Renal amyloidosis, Recurrent aphthous stomatitis, Maculopapular exanthema OMIM:191900
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i... ORPHA:90068
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Muckle-Wells Syndrome
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis, Recurrent aphthou... ORPHA:575
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Otitis media, Micr... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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