Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
A kinase (PRKA) anchor protein (gravin) 12
Synonyms:
SSeCKS,  Tsga12,  Srcs5

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Cerebellar atrophy, Oligomenorrhea OMIM:212840
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Colitis, Pancytopenia,... OMIM:300635
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty, Acne ORPHA:3000
Melioidosis
Prostatitis, Lung abscess, Respiratory tract infection, Cutaneous abscess, Splenic abscess, Acute... ORPHA:31202
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Amenorrhea, Pleural effusion, Hepatocellul... OMIM:235200
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Abnormality of the urethra, Male pseudohermaphr... ORPHA:752
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Acne, Oligomenorrhea OMIM:604931
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, He... ORPHA:905
Paternal Uniparental Disomy Of Chromosome X
Infertility, Decreased testicular size, Micropenis ORPHA:261524
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Cerebellar atrophy OMIM:613909
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Amenorrhea, Hepatomegaly, Splenomega... OMIM:602390
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries, Dilated cardiomyopathy, Pr... ORPHA:2229
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
African Iron Overload
Peritonitis, Micronodular cirrhosis, Abnormal heart morphology, Viral hepatitis, Hepatic steatosi... ORPHA:139507
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Cor pulmonale, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arth... OMIM:300755
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Female external genitalia in individual with 46,XY karyotype, Male pseudohermaphrodi... OMIM:264300
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... ORPHA:562
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal vagina morphology, Abnormal endocardium morphology, Cheilitis, Dyspareunia, H... ORPHA:1334
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Ethanolaminosis
Cardiomegaly OMIM:227150
Adult-Onset Still Disease
Skin rash, Pleuritis, Pericarditis, Elevated hepatic transaminase, Leukocytosis, Myocarditis, Gen... ORPHA:829
Aspergillosis
Ground-glass opacification, Abnormal sputum, Pleuritis, Bronchiectasis, Pulmonary fibrosis, Paren... ORPHA:1163
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Abnormal cerebellum mo... OMIM:618652
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Anteri... ORPHA:227990
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Ciliary Dyskinesia, Primary, 40
Infertility, Situs inversus totalis, Azoospermia, Abnormal heart morphology, Rhinitis OMIM:618300
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Anteri... ORPHA:227982
Legionnaires Disease
Abnormal lung morphology, Endocarditis, Pericarditis, Myocarditis, Lymphopenia, Abnormal pleura m... ORPHA:549
X-Linked Agammaglobulinemia
Recurrent pneumonia, Skin rash, Abnormal lung morphology, Chronic otitis media, Neutropenia, Thro... ORPHA:47
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Chronic hepat... ORPHA:465508
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Avian Influenza
Ground-glass opacification, Myelitis, Elevated hepatic transaminase, Pleural effusion, Lymphopeni... ORPHA:454836
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis ORPHA:280356
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentr... OMIM:611182
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona... OMIM:240950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Chronic atr... OMIM:240300
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Stomatitis, T... OMIM:308230
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Giant cell hepatitis, Cholelithiasis OMIM:214980
Morbid Obesity And Spermatogenic Failure
Infertility, Hepatic steatosis, Azoospermia, Oligospermia OMIM:615703
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepa... ORPHA:33110
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase, V... ORPHA:2137
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections, Broad nasal tip ORPHA:363523
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyro... ORPHA:139402
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol... ORPHA:168563
Spastic Paraplegia With Precocious Puberty
Precocious puberty OMIM:182820
Alstrom Syndrome
Nephritis, Elevated hepatic transaminase, Multinodular goiter, Chronic active hepatitis, Hypergon... OMIM:203800
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Pleural effusion, ... ORPHA:292
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the... ORPHA:39812
Ciliary Dyskinesia, Primary, 41
Infertility, Bronchiectasis, Recurrent otitis media, Immotile sperm, Recurrent sinusitis OMIM:618449
Q Fever
Pericarditis, Pericardial effusion, Pneumonia, Maculopapular exanthema, Anemia, Myocarditis, Oste... ORPHA:781
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Leukopenia, Sple... ORPHA:381
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory i... OMIM:300991
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231226
Ciliary Dyskinesia, Primary, 37
Infertility, Situs inversus totalis, Goiter, Bronchiectasis, Dextrocardia, Chronic rhinitis OMIM:617577
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Hepatitis, Wide nose OMIM:614602
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Choanal atresia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancre... OMIM:610199
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, ... ORPHA:324410
Primary Sclerosing Cholangitis
Thyroiditis, Jaundice, Cirrhosis, Uveitis, Acute hepatic failure, Elevated alkaline phosphatase o... ORPHA:171
Ciliary Dyskinesia, Primary, 13
Infertility, Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein ar... OMIM:613193
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Jaundice, Right v... OMIM:613404
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Ventricular septal defect, Autoimmune hemolytic anemia, Hypoplasia of the th... OMIM:243150
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Abnormality of the me... ORPHA:91348
Ciliary Dyskinesia, Primary, 29
Infertility, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Amenorrhea, Pituitary hypothyroidism, Abnormal prolactin level, ... ORPHA:95619
Ciliary Dyskinesia, Primary, 26
Infertility, Situs inversus totalis, Reduced sperm motility, Bronchiectasis, Absent outer dynein ... OMIM:615500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Myositis, E... ORPHA:37042
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal def... OMIM:208085
Ciliary Dyskinesia, Primary, 25
Infertility, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis... OMIM:615482
Ciliary Dyskinesia, Primary, 22
Infertility, Situs inversus totalis, Reduced sperm motility, Bronchiectasis, Nasal polyposis, Rec... OMIM:615444
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ly... ORPHA:858
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Wilson Disease
Cirrhosis, Tremor, Hemolytic anemia, Hepatocellular carcinoma, Hepatomegaly, Atypical or prolonge... OMIM:277900
Bacterial Toxic-Shock Syndrome
Peritonitis, Respiratory tract infection, Skin rash, Increased circulating metamyelocyte count, P... ORPHA:36234
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Choanal atresia, Acute hepatic failure, Neutropenia in presence of anti-n... ORPHA:228426
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Anteverted nares, Ventricular septal defect, Pleural effusion, Cerebellar hypoplasia,... OMIM:616897
Ciliary Dyskinesia, Primary, 38
Infertility, Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Chronic ... OMIM:618063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Neutropenia, Lymphad... OMIM:304790
Ciliary Dyskinesia, Primary, 19
Infertility, Situs inversus totalis, Reduced sperm motility, Bronchiectasis, Nasal polyposis, Rec... OMIM:614935
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Infertility, Situs inversus totalis, Bronchiectasis, Nasal polyposis, Immotile... OMIM:613808
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Choanal atresia, Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Hypersplenism, Spl... OMIM:613385
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty OMIM:614736
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Anteverted nares, Ventricular septal defect, Hypergonadotropic... OMIM:602782
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Normocytic anemia, Adrenocorticotropic hormone deficiency, Hepatitis, Macr... ORPHA:199299
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration, Infertility, Irregular menstruation OMIM:264110
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Keratoconjunctivitis sicca, Splenomegaly, Mediastinal lymphadenopa... ORPHA:91138
Mulibrey Nanism
Myocardial fibrosis, Hypoplastic frontal sinuses, Wide nasal bridge, Hepatomegaly, Cardiomegaly, ... OMIM:253250
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Sk... ORPHA:572
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomy... OMIM:617713
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Viral hepatitis, Neutropenia, Biliary tract abnorma... OMIM:209920
Ciliary Dyskinesia, Primary, 2
Infertility, Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dyne... OMIM:606763
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, Dilated ca... OMIM:614921
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Splenomegaly, Anteverted nares OMIM:269920
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Low alkaline phosphatase, Hepatomegaly, Elevated circulating alkaline phosphatase... OMIM:618143
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Porphyria Cutanea Tarda
Cutaneous abscess, Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, ... ORPHA:101330
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly, Labial hypertrophy, Precoc... ORPHA:96191
Mucopolysaccharidosis Type 7
Abnormal pleura morphology, Hepatitis, Recurrent respiratory infections, Splenomegaly ORPHA:584
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine... OMIM:212140
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Infertility, Premature pubarche, Scrotal hypoplasia, Small pituitary gland, Recur... ORPHA:398079
Timothy Syndrome
Ventricular septal defect, Bronchitis, Pneumonia, Cardiomegaly, Patent foramen ovale, Tetralogy o... OMIM:601005
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Chronic hepatitis, Anemia, Neutrophilia, Eczema, Eosinophilia, Cervi... ORPHA:3260
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased liver function, Acute hepatitis OMIM:238970
Spondyloenchondrodysplasia
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pneumonia, Pancytopenia, Art... ORPHA:1855
Zygomycosis
Peritonitis, Pericarditis, Neutropenia, Sinusitis, Myocarditis, Air crescent sign, Endocarditis, ... ORPHA:73263
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Ventricular septal defect, Autoimmune hemolytic anemia, Hashimoto thyroiditis... ORPHA:436252
Ciliary Dyskinesia, Primary, 24
Infertility, Bronchiectasis, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Hepatic fi... ORPHA:186
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Scleritis, Pericarditis, Abnormal endocardium morphology, Abnorm... ORPHA:728
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebellar hypoplasia, Cardiomegaly, Recurrent pneumonia ORPHA:3137
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Increased circulating lactate de... OMIM:600649
Gaucher Disease
Tremor, Cirrhosis, Pulmonary fibrosis, Abnormal heart valve morphology, Mitral valve calcificatio... ORPHA:355
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Cholestasis, Hepatitis, Cholestatic liver disease, Anemia, Portal ... ORPHA:440713
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Acne, Long penis, Premature pubarche, Ambiguous genitalia, female, Irregular... ORPHA:90795
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Impotence, Cardiomyopathy, Cardiomegaly OMIM:105210
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis, ... ORPHA:589
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... ORPHA:391487
Sandhoff Disease
Impotence, Reduced beta-hexosaminidase activity, Hepatomegaly, Exaggerated startle response, Card... OMIM:268800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Exocrine pancreatic insufficiency, Megaloblastic anemia, Cor pulmonale, Emphysema, B... OMIM:219721
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Lichen Planopilaris
Hepatitis ORPHA:525
Kawasaki Disease
Skin rash, Pericarditis, Leukocytosis, Abnormal heart valve morphology, Cheilitis, Abnormal pulmo... ORPHA:2331
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiom... OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:619064
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Hepatomegaly, Cardio... OMIM:252920
Beckwith-Wiedemann Syndrome
Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Pancreatic hyperpl... OMIM:130650
Cantu Syndrome
Pericardial effusion, Wide nasal bridge, Congenital hypertrophy of left ventricle, Cardiomegaly, ... OMIM:239850
Gaucher Disease, Perinatal Lethal
Short nose, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Opisthotonus, Hepatomegaly... OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Tremor, Atrial septal defect, Ventricular septal defect, Cerebellar hypoplasia, P... OMIM:300967
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overridi... OMIM:617022
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cerebellar hypoplasia, Cardiomegaly, An... OMIM:618886
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly, Elevated hepatic transaminase OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Cardiomegaly OMIM:619170
Leptospirosis
Pulmonary hemorrhage, Skin rash, Elevated serum transaminases during infections, Pericarditis, Pl... ORPHA:509
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver physiology, Decrea... ORPHA:64
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Necrotizing entero... OMIM:201475
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Acute Disseminated Encephalomyelitis
Viral hepatitis, Abnormal cerebellum morphology, Myelitis, Optic neuritis ORPHA:83597
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Infertility, Oligospermia, Oligomenorrhea, Adrenal hyperplasia, Precocious p... ORPHA:786
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Elevated hepatic transaminase, Microcytic anemia, Irregular menstruation, Recurrent... OMIM:256040
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Cardiomegaly, Anteverted nares, Wide nose, Depressed nasal bridge OMIM:613320
Histiocytoid Cardiomyopathy
Cerebellar malformation, Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Laryngeal w... ORPHA:137675
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Bulbous nose, Elevated hepatic transaminase, Enlarged kidney, Macrovesicular hepatic steatosis, H... OMIM:608836
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Fucosidosis
Vacuolated lymphocytes, Absent/hypoplastic paranasal sinuses, Hepatomegaly, Cardiomegaly, Splenom... OMIM:230000
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Tremor, Elevated hepatic transaminase, Chronic lymphatic le... ORPHA:51
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure ORPHA:415
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Increased circulating lactate dehydrogenase concentration, Elevated ... ORPHA:308552
Hsd10 Disease, Infantile Type
Abnormal enzyme/coenzyme activity, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Atelectasis, ... OMIM:618278
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Cerebellar vermis hypoplasia, Hepatomegaly, Hepatic calcification, Tubulointer... ORPHA:228308
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Increased hepatic glycogen content, Cardiomyopathy, Cardiomegaly OMIM:619259
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Greenberg Dysplasia
Abnormal lung lobation, Tracheal calcification, Pleural effusion, Extramedullary hematopoiesis, H... OMIM:215140
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Recurrent bronchitis, Increased serum iduronate sulfatase level, Recurrent o... OMIM:252500
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly OMIM:232300
Beckwith-Wiedemann Syndrome
Cryptorchidism, Arnold-Chiari malformation, Exocrine pancreatic insufficiency, Enlarged kidney, P... ORPHA:116
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Wide nasal bridge, Cardiomegaly, Abnormal cardiac septum morpho... ORPHA:97297
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Mucopolysaccharidosis Type 3
Respiratory tract infection, Recurrent tonsillitis, Abnormal mitral valve morphology, Chronic oti... ORPHA:581
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Hepatomegaly, Displacement of the papillary muscles, Righ... ORPHA:1329
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Craniofaciofrontodigital Syndrome
Short nose, Abnormal heart morphology, Cardiomegaly, Anteverted nares, Depressed nasal bridge OMIM:114620
Non-Acquired Panhypopituitarism
Infertility, Ectopic anterior pituitary gland, Amenorrhea, Pituitary hypothyroidism, Ectopic post... ORPHA:90695
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis OMIM:242850
Acute Liver Failure
Skin rash, Hepatocellular necrosis, Elevated hepatic transaminase, Thrombocytopenia, Jaundice, He... ORPHA:90062
Occipital Horn Syndrome
Jaundice, Hepatitis, Esophagitis, Cholestasis ORPHA:198
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Peripheral pulmonary artery stenosis, Cardiomega... ORPHA:904
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Mitral regurgitation, Abnormal left ventricular function, ... ORPHA:391665
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Yunis-Varon Syndrome
Cryptorchidism, Atrial septal defect, Anteverted nares, Ventricular septal defect, Clitoral hyper... ORPHA:3472
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Wide nasal bridge, Cardiomegaly, Anteverted nares, Hypertrophic ... ORPHA:1517
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hepatic fibrosis, H... ORPHA:14
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormality of the thymus, Wide nose ORPHA:2463
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Increased circulating lactate dehydrogenase concentration, Elevated ... ORPHA:365
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Cardiomegaly ORPHA:255249
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hemoptysis, Cardiomegaly, Pneumothorax, Bicuspid aortic valve ORPHA:91387
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Recurrent spontaneous abortion, Elevated alkaline ... ORPHA:51608
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Depressed nasal bridge ORPHA:79280
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Recu... 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.

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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

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