banner
Genes Phenotypes Help, News, Blog

Gene: Akap12 MGI:1932576

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
A kinase anchor protein 12
Synonyms:
Srcs5,  SSeCKS,  Tsga12

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 Akap12 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 Akap12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection... ORPHA:444463
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Melioidosis
Lung abscess, Pneumonia, Liver abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelit... ORPHA:31202
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the ... OMIM:300635
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Acne, Macroorchidism ORPHA:3000
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Infertility, Cardiomyopathy, Splenomegaly, Ameno... OMIM:602390
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Infertility, Acne OMIM:604931
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia OMIM:613909
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Ethanolaminosis
Cardiomegaly OMIM:227150
Mccune-Albright Syndrome
Decreased fertility, Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Abnormal te... ORPHA:562
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Cheilitis, Abnormal vagina morphology, Skin rash, Dyspareunia, R... ORPHA:1334
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Female external genitalia in individual with 46,XY karyotype, Infertility, Hypothyroidism, Male p... OMIM:264300
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Emphysema, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Recurrent sinusitis, Bronchiectasis, Immotile sperm OMIM:618449
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Sk... ORPHA:47
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Ch... OMIM:240300
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Recurrent respiratory infections, Hepatitis ORPHA:363523
Agammaglobulinemia, X-Linked
Recurrent otitis media, Anemia, Pyoderma, Prostatitis, Recurrent lower respiratory tract infectio... OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to growth hormone st... OMIM:307200
Microsporidiosis
Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio... ORPHA:2552
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Arthritis, Hepatocellular carcinoma, Chronic hepat... ORPHA:465508
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Bone marrow hypocell... ORPHA:549
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Infertility, Chronic rhinitis, Recu... OMIM:615482
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Cerebellar atrophy, Elevated serum transaminases during infections, Elevated... OMIM:611182
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Erythroderma, Recurrent p... ORPHA:169160
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiectasis, Sinusitis, Keratitis, ... ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Abnormal cerebellum morphology, Cardiomegaly, Atr... OMIM:618652
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:308230
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Q Fever
Elevated circulating hepatic transaminase concentration, Pericarditis, Splenomegaly, Cholecystiti... ORPHA:781
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis, Atelectasis, Infertility, Bronchiectasis, Recurrent respiratory infections OMIM:615872
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:79303
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hepati... ORPHA:292
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Decreased testicular size, Elevated circulating luteinizing hormone lev... OMIM:229070
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic steno... OMIM:108900
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, T... ORPHA:381
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Eczematoid dermatiti... OMIM:304790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N... ORPHA:37042
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ... OMIM:614921
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Reduc... OMIM:615500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent pneumonia, Recurrent si... OMIM:615207
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Splenomeg... OMIM:613385
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent sinusiti... OMIM:615481
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple... ORPHA:171
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Avian Influenza
Pneumothorax, Elevated circulating hepatic transaminase concentration, Myelitis, Pleural effusion... ORPHA:454836
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Recurrent... ORPHA:3261
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Azoospermia, Infertility, Chronic rhinitis... OMIM:618300
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin... OMIM:208085
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Primary Sjögren Syndrome
Normochromic anemia, Optic neuritis, Bronchitis, Biliary cirrhosis, Leukopenia, Lymphopenia, Eryt... ORPHA:289390
Aicardi-Goutieres Syndrome 7
Skin rash, Cerebellar atrophy, Chilblains, Splenomegaly, Hepatic steatosis, Pancytopenia, Atopic ... OMIM:615846
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyro... ORPHA:228426
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple... OMIM:269200
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anemia, Adreno... ORPHA:199299
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio... ORPHA:83471
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Re... OMIM:308240
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Recurrent otitis media, Infertility, Recurrent pneumonia, Bronchiectasis,... OMIM:613808
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Mogs-Cdg
Pulmonary edema, External genital hypoplasia, Hepatomegaly, Hypothyroidism, Dystonia, Thrombocyto... ORPHA:79330
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Myositis, Arthritis, Skin rash, Increased circulating myelocyte count, He... ORPHA:36234
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Situs inversus totalis, Dextrocardia, Infertility, Rhinitis, Bronchiectasis... OMIM:618063
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Infertility, Rhinitis, Recurrent si... OMIM:615444
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hepatomegaly, Decreased liver function OMIM:238970
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Chronic mucocutaneous can... OMIM:209920
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Arthritis, Viral hepatitis, Splenomegaly, Abnormality ... ORPHA:91138
Sandhoff Disease
Hepatomegaly, Impotence, Exaggerated startle response, Hypohidrosis, Hyperhidrosis, Hepatosplenom... OMIM:268800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Colitis ORPHA:88643
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Recurrent ... ORPHA:572
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Cereb... OMIM:620642
Adrenal Hypoplasia, Congenital
Azoospermia, Oligozoospermia, Precocious puberty, Primary adrenal insufficiency, Decreased circul... OMIM:300200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Reduced natural killer c... OMIM:619381
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly, C... OMIM:616897
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Hepatitis, Splenomegaly, Abnormal pleura morphology ORPHA:584
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Hepatitis, Adrenocorticotropin... ORPHA:199296
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... OMIM:203800
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Cardiomegaly, Hepatosp... ORPHA:99931
Trichohepatoenteric Syndrome 2
Chronic hepatitis, Cirrhosis, Hepatomegaly, Colitis OMIM:614602
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Pure red cell aplasia, Hashimoto thyroiditis, Primary adrenal ins... ORPHA:589
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Juvenile rheu... ORPHA:1855
Gaucher Disease
Leukopenia, Splenomegaly, Pancytopenia, Tremor, Splenic infarction, Splenic rupture, Pulmonary fi... ORPHA:355
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic... ORPHA:3260
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia... OMIM:602782
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Zygomycosis
Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a... ORPHA:73263
Infantile Sialic Acid Storage Disease
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:269920
Wilson Disease
Portal fibrosis, Limb dystonia, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice,... OMIM:277900
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular sept... ORPHA:860
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline p... ORPHA:186
Postinfectious Vasculitis
Gastrointestinal inflammation, Bacterial endocarditis, Arthritis, Cardiomyopathy, Viral hepatitis... ORPHA:48435
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Primary hypothyroidism, B lymphocytopenia, Neutropenia in presence o... ORPHA:391487
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Cholestasis, Portal hypertensio... ORPHA:440713
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Congenital hydrocele, ... OMIM:620376
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Hypertrophic cardiomyopathy, Pericardial effusion, Dystonia, Cardiomegaly OMIM:614702
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Peritoneal abscess, Ventricular septal defect, Hypoplasia of the thy... ORPHA:436252
Mulibrey Nanism
Hepatomegaly, Recurrent lower respiratory tract infections, Pericardial constriction, Myocardial ... OMIM:253250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Hyperhidrosis OMIM:613576
Timothy Syndrome
Cardiomegaly, Bronchitis, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Pneumonia, V... OMIM:601005
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cerebellar hypoplasia, Recurrent pneumonia ORPHA:3137
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Asymmetric septal hypertroph... OMIM:252920
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Glandular hypospadias, Cerebellar atrophy, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cerebellar vermis atrophy, Cerebellar atrophy, Hypoplasia of the pons, Low alkaline... OMIM:618143
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Lichen Planopilaris
Hepatitis ORPHA:525
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Abnormal aortic valve morphology, Atelectasis, Recu... ORPHA:728
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Tremor, Cardiomyopathy, Impotence, Intention tremor, Cardiomegaly OMIM:105210
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections OMIM:619170
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Cryptococcosis
Cirrhosis, Pneumonia, Mediastinal lymphadenopathy, Prostatitis, Pleural effusion, Peritonitis, Ly... ORPHA:1546
Ebola Hemorrhagic Fever
Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis, Maculopapular exanthema ORPHA:319218
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Cheilitis, Recurrent pharyngitis, Abnormal pulmo... ORPHA:2331
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi... OMIM:256550
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ... ORPHA:449432
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of... ORPHA:449563
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Arthritis, Viral hepatitis, Pericarditis, Abnormal lung morphology, N... ORPHA:91139
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Acute Disseminated Encephalomyelitis
Myelitis, Herpes simplex encephalitis, Optic neuritis, Viral hepatitis, Abnormal cerebellum morph... ORPHA:83597
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Ventricula... OMIM:618278
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Cerebellar hypoplasia, Congenital thrombocytop... OMIM:618886
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Dystonia, Car... ORPHA:391428
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Pleuritis, ... ORPHA:900
Long-Olsen-Distelmaier Syndrome
Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva... OMIM:620609
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Necrotizing enterocolitis, Hypertrophic cardiomyopathy, Hepato... OMIM:201475
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlarge... ORPHA:57777
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Rift Valley Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Skin rash, Thrombocyto... ORPHA:319251
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypothyroi... OMIM:617713
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligozoospermia, Adrenal hyperplasia, Female pseudohermaphroditism, Precocious puber... ORPHA:786
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Dandy-Walker malformation, Cardiomyopathy, Pancreati... OMIM:130650
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Vent... OMIM:617022
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pulmonary hypoplasia, C... OMIM:608013
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pleural effusion, Pericarditi... ORPHA:509
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Atelectasis, Splenic cyst, Patent foramen ovale, Pulmonary artery atresia, Hepatic ... OMIM:620371
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:415
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Panniculitis, Chronic lymphatic leukemia... ORPHA:51
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating hepatic transaminase concentration, Atelectasis, Resting tremor... ORPHA:319213
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating alanine... ORPHA:308552
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Hypothyroidism, Hyperhidrosis, Cardiomegaly ORPHA:349
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi... OMIM:608836
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Transposition of the great arteries, Abnormal heart valv... ORPHA:3384
Alkaptonuria
Prostatitis, Black pigment gallstones, Arthritis, Abnormal heart valve morphology, Mitral valve c... ORPHA:56
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Recurrent... OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect, Tremor, Left ven... OMIM:300967
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Bicuspid aortic valve, Cardiomegaly, Perimembranous ven... OMIM:300855
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Anhidrosis, Dystonia, Reduced circulating alpha-L-fucosidas... OMIM:230000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Reduced tissue carnitine O-palmitoyltransferase 2 activity, Cerebellar vermis hypop... ORPHA:228308
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Hyperhidrosis, ... ORPHA:1329
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Cerebellar atrophy, Increased hepatic glycogen content OMIM:619259
Histiocytoid Cardiomyopathy
Pulmonary edema, Hepatomegaly, Cerebellar malformation, Cardiomegaly, Polycystic ovaries, Ventric... ORPHA:137675
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Bronchiectasi... ORPHA:95430
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Reduced phytanic acid oxidase activity in cultured fibroblasts OMIM:266500
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia OMIM:618838
Glycogen Storage Disease Ii
Hepatomegaly, Pleural effusion, Reduced muscle alpha-1,4-glucosidase activity, Increased circulat... OMIM:232300
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Acute Liver Failure
Jaundice, Elevated circulating hepatic transaminase concentration, Skin rash, Hepatic periportal ... ORPHA:90062
Mucopolysaccharidosis Type 3
Chronic otitis media, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent ton... ORPHA:581
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Chiari malformation, V... ORPHA:116
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cirrhosis, Familial
Cirrhosis, Jaundice, Fulminant hepatitis, Biliary cirrhosis, Micronodular cirrhosis OMIM:215600
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Cardiomegaly, Patent foramen ovale, Truncus arteriosus, Re... ORPHA:980
Occipital Horn Syndrome
Jaundice, Cholestasis, Esophagitis, Hepatitis ORPHA:198
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul... ORPHA:14
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Enlarged kidney, Cardiomyopathy, Pleural effusion, Hypertrophic cardiomyopathy, ... OMIM:261740
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Recurrent otitis media, Cardiomegaly, Recurrent bronchitis, Hypert... OMIM:252500
Williams Syndrome
Chronic otitis media, Hypoplasia of penis, Pulmonic stenosis, Mitral valve prolapse, Bicuspid aor... ORPHA:904
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Dandy-Walker malformation, Cardiomegaly, Recurrent respiratory ... ORPHA:97297
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Atelectasis, Abnormal circulating enzyme concentration or activity, Elevated circul... ORPHA:365
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Cerebellar atrophy, Partial atrioventricular canal defect, Secundum atrial septal d... OMIM:620066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Pleural effusion, Atrial septal dilatation, Abnormality of the hepatic vasculature,... ORPHA:1677
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Angina pectoris, Hypertension, Mitral regurgita... ORPHA:391665
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot... ORPHA:3472
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Hepatomegaly, Tra... ORPHA:99125
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pneumothorax, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Right vent... ORPHA:1478
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Elevated alkaline phosphatase of bone origin, Ventricular hypertrophy, Pericardial effusion, Panc... ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Pleural effusion, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, ... OMIM:182250

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 Akap12

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 Akap12.

No publications found that use IMPC mice or data for Akap12.

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
Akap12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Akap12tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter