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Gene: Akap12 MGI:1932576

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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:
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
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... ORPHA:444463
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Abnormality of the spleen... ORPHA:31202
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Azoospermia, Pleural eff... OMIM:235200
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility ORPHA:3000
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormality of the menstrual ... ORPHA:905
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... ORPHA:139507
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea, Acne OMIM:604931
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cerebellar atrophy OMIM:613909
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Ethanolaminosis
Cardiomegaly OMIM:227150
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Bone marrow hypocellularity, Increased circulating co... ORPHA:562
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Hepatitis, Skin rash, Abnormal endocardium morphology, Dyspareunia, R... ORPHA:1334
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice... ORPHA:60
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis OMIM:618449
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Abnormality of the lymphatic system, Re... ORPHA:47
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Male hypogonadism, Cholelithiasis, Chronic mucocutaneous candidiasis, Adrenal... OMIM:240300
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hypohidrosis, Hepatitis ORPHA:363523
Agammaglobulinemia, X-Linked
Cor pulmonale, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent otitis media, Pyode... OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Decreased response to growth hormone stimulation test, Recurren... OMIM:307200
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased libido, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotrop... ORPHA:465508
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenomegaly, In... ORPHA:549
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Situs inversus totalis, Chronic bronchi... OMIM:615482
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinop... ORPHA:169160
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, H... ORPHA:158061
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Autosomal Agammaglobulinemia
Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Neutropenia, Con... ORPHA:33110
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Eosino... ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Abnormal cerebellum morphology, Patent foramen ovale, Ventricular septa... OMIM:618652
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Hemolytic anemia, Splenomegaly, Enteroviral enc... OMIM:308230
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Q Fever
Hepatosplenomegaly, Hepatomegaly, Endocarditis, Osteomyelitis, Abnormality of the liver, Pleural ... ORPHA:781
Ciliary Dyskinesia, Primary, 29
Atelectasis, Situs inversus totalis, Infertility, Recurrent respiratory infections, Bronchiectasis OMIM:615872
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Pleural effusion, Skin rash,... ORPHA:292
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Hypothyroidism... OMIM:304790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Rhinitis... OMIM:615500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Pancytopenia, Portal hypertension, Splenomegaly, Hashimoto thyroiditis,... OMIM:613385
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic rhinitis, Infertilit... OMIM:615481
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo... ORPHA:294
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Anemia, Lymphadenopathy, T... ORPHA:858
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:454836
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat... OMIM:208085
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Aicardi-Goutieres Syndrome 7
Pancytopenia, Hepatic steatosis, Chilblains, Hepatomegaly, Recurrent lower respiratory tract infe... OMIM:615846
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyto... ORPHA:228426
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit... OMIM:243150
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficiency, Primary... OMIM:269200
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrenal insuf... ORPHA:199299
Functioning Gonadotropic Adenoma
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... ORPHA:91348
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... OMIM:620565
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplasia of the thymus, H... ORPHA:83471
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Chronic ... OMIM:613808
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Mogs-Cdg
External genital hypoplasia, Hepatosplenomegaly, Pulmonary edema, Cardiomegaly, Left ventricular ... ORPHA:79330
Bacterial Toxic-Shock Syndrome
Pneumonia, Septic arthritis, Hepatitis, Fasciitis, Osteomyelitis, Respiratory tract infection, Sk... ORPHA:36234
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Situs inversus totalis, Chronic sinusitis, Dextrocardia, Infertility, Rhini... OMIM:618063
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Decreased circulating T4 concent... OMIM:610199
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Rhinitis... OMIM:615444
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Decreased liver function OMIM:238970
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Biliary tract ab... OMIM:209920
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Medi... ORPHA:91138
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Hypohidrosis, Hyperhidrosis, Exaggerated startle response, Hepa... OMIM:268800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis, Congenital hypothyroidism ORPHA:88643
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Pancytopenia, Decreased proportion of ... ORPHA:572
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Dilated... OMIM:620642
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Adrenal insufficiency, Primary adrenal insufficiency, Cryptorchi... OMIM:300200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia OMIM:614096
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Recurrent ski... OMIM:619381
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cerebellar hypoplasia, ... OMIM:616897
Mucopolysaccharidosis Type 7
Abnormal pleura morphology, Hepatitis, Splenomegaly, Recurrent respiratory infections ORPHA:584
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenocorticotropin deficient ... ORPHA:199296
Alstrom Syndrome
Irregular menstruation, Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulat... OMIM:203800
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Primary adrenal insufficiency, Hashimoto thyroiditis, Myositis, ... ORPHA:589
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Decreased response to growth hormone stimulation test, Pancytopenia, Skin r... ORPHA:1855
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu... OMIM:600649
Gaucher Disease
Aortic valve calcification, Pancytopenia, Cirrhosis, Hepatomegaly, Cholelithiasis, Abnormal peric... ORPHA:355
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Myocardia... ORPHA:3260
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc... OMIM:212140
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural effusion, Peritonitis, En... ORPHA:73263
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Wilson Disease
Acute hepatic failure, Limb dystonia, Hepatic steatosis, Cirrhosis, Elevated circulating alanine ... OMIM:277900
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, H... ORPHA:186
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cardiomyopathy, Orchitis... ORPHA:48435
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... ORPHA:440713
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a... OMIM:620376
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly, Pericardial effusion, Dystonia OMIM:614702
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,... ORPHA:436252
Timothy Syndrome
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... OMIM:601005
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower respiratory tract infection... OMIM:253250
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Hyperhidrosis OMIM:613576
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... ORPHA:449395
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Reduced tissue alpha-N-... OMIM:252920
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Glandular hypospadias, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebellar hypoplasia, Recurrent pneumonia, Cardiomegaly ORPHA:3137
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Hypoplasia of the pons, Cerebellar vermis atrophy, Cryptorchidism, Elevated c... OMIM:618143
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Lichen Planopilaris
Hepatitis ORPHA:525
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit... ORPHA:728
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Tremor, Pulmonary edema, Cardiomegaly, Impotence, Intention tremor OMIM:105210
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect OMIM:619170
Cryptococcosis
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Cirrh... ORPHA:1546
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Maculopapular exanthema, Acute pancreatitis ORPHA:319218
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... ORPHA:42
Kawasaki Disease
Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pulm... ORPHA:2331
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... OMIM:256550
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Igg4-Related Ophthalmic Disease
Thyroiditis, Keratitis, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitar... ORPHA:449563
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... ORPHA:3427
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Abnormal heart morphology, Chronic lymphatic leukemia, Arthritis, Mem... ORPHA:91139
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Acute Disseminated Encephalomyelitis
Myelitis, Herpes simplex encephalitis, Abnormal cerebellum morphology, Optic neuritis, Viral hepa... ORPHA:83597
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Atelectasis, Hepatocellular necrosis, ... OMIM:618278
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cerebellar hypoplasia, Cardiomegaly, Congenital thrombocytopenia, An... OMIM:618886
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity, Cardiomegaly,... ORPHA:391428
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, Pr... ORPHA:900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... OMIM:620609
Alström Syndrome
Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentra... ORPHA:64
Cirrhotic Cardiomyopathy
Pulmonary edema, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Cirrhosis, ... ORPHA:57777
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepatic steato... OMIM:619991
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Increased circulating cortisol level, Female pseudohermaphroditism, Adrenal h... ORPHA:786
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... OMIM:130650
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Torticollis,... OMIM:617022
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Opisthotonus, Anemia, Thrombocyt... OMIM:608013
Leptospirosis
Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Elevated serum transaminas... ORPHA:509
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Atelectasis, Cryptorchidism, Patent foramen ovale, Splenic cyst, C... OMIM:620371
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Hy... ORPHA:51
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopathy, Abnormal ... ORPHA:308552
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:319213
Fucosidosis
Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Hyperhidrosis, Hepatomegaly ORPHA:349
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula... OMIM:608836
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall... ORPHA:3384
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Black pigment... ORPHA:56
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Recurrent upper respiratory tract infections, Elevated circulating hepati... OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Tr... OMIM:300967
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Ogden Syndrome
Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspid aort... OMIM:300855
Fucosidosis
Recurrent respiratory infections, Reduced circulating alpha-L-fucosidase activity, Splenomegaly, ... OMIM:230000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, H... ORPHA:228308
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal... ORPHA:1329
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cerebellar atrophy, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Histiocytoid Cardiomyopathy
Cerebellar malformation, Ventricular septal defect, Pulmonary edema, Polycystic ovaries, Cardiome... ORPHA:137675
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Refsum Disease, Classic
Cardiomegaly, Reduced phytanic acid oxidase activity in cultured fibroblasts, Cardiomyopathy OMIM:266500
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia OMIM:618838
Glycogen Storage Disease Ii
Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen... OMIM:232300
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Respiratory tract infection, Abnormal m... ORPHA:581
Beckwith-Wiedemann Syndrome
Chiari malformation, Visceromegaly, Abnormal pancreas morphology, Polycythemia, Hypertrophic card... ORPHA:116
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... ORPHA:980
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Occipital Horn Syndrome
Cholestasis, Jaundice, Esophagitis, Hepatitis ORPHA:198
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepati... ORPHA:14
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Pleural effusion, Pulmona... OMIM:261740
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Hypertrophic cardiomyopathy, Recurrent otitis media, Increased iduronate sul... OMIM:252500
Williams Syndrome
Chiari malformation, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septa... ORPHA:904
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Recurrent res... ORPHA:97297
Glycogen Storage Disease Due To Acid Maltase Deficiency
Increased circulating lactate dehydrogenase concentration, Atelectasis, Hypertrophic cardiomyopat... ORPHA:365
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Cerebellar atrophy, Partial atrioventricular canal defect, Ventric... OMIM:620066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Pleural effusion, Cardiomegaly, Hepatomegaly, Right atria... ORPHA:1677
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... ORPHA:3472
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Pneumothorax ORPHA:91387
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... 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
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Elevated alkaline phosphatase of bone origin, Pancreatic calcification, ... ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Pleural effusion, Cardiomegaly, Mitral valve c... 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

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