Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alanine-glyoxylate aminotransferase 2
Synonyms:
N/A

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 Agxt2 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.

The table below shows human diseases associated to Agxt2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100

The table below shows human diseases predicted to be associated to Agxt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Paragangliomas 6
Hypertension OMIM:618464
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Aminoaciduria, Hypertension OMIM:268500
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Hypertension OMIM:614473
Liddle Syndrome 3
Hypertension OMIM:618126
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Myocardial infarction, Hypertension OMIM:610947
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Preeclampsia
Elevated diastolic blood pressure, Elevated circulating creatinine concentration, Hypertension, E... ORPHA:275555
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension OMIM:615703
Lipodystrophy, Familial Partial, Type 4
Hypertension OMIM:613877
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Raynaud phenomenon, Hypertension OMIM:615750
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension OMIM:605711
Lessel-Kubisch Syndrome
Hypertension OMIM:618681
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Cerebral ischemia, Transien... ORPHA:36382
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Hypertension OMIM:208000
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension OMIM:616733
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Pulmonary arter... OMIM:178600
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension OMIM:617021
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypertension OMIM:613095
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Familial Partial Lipodystrophy, Köbberling Type
Hypertension ORPHA:79084
Liddle Syndrome 2
Hypertension OMIM:618114
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Elevated circulating creat... ORPHA:439232
Denys-Drash Syndrome
Hypertension ORPHA:220
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Senior-Loken Syndrome
Hypertension ORPHA:3156
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Takayasu Arteritis
Hypertensive crisis, Hypertension, Myocardial infarction, Cerebral ischemia, Pulmonary arterial h... ORPHA:3287
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine ORPHA:289601
Potocki-Shaffer Syndrome
Hypertension ORPHA:52022
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Glutaric Aciduria Iii
Hypertension OMIM:231690
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613355
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hypertension OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hypertension OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hypertension OMIM:612926
Plin1-Related Familial Partial Lipodystrophy
Hypertension ORPHA:280356
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Hypertension OMIM:173900
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypertension OMIM:618913
Nephronophthisis 2
Pulmonary insufficiency, Elevated circulating creatinine concentration, Hypertension OMIM:602088
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension OMIM:201910
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Elevated systolic blood pressure OMIM:300539
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Lcat Deficiency
Hypertension ORPHA:650
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension OMIM:202110
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Ischemic stroke, Hypertension ORPHA:280679
Atrioventricular Septal Defect 3
Midsystolic murmur, Hypertension, Congestive heart failure, First degree atrioventricular block, ... OMIM:600309
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension ORPHA:1192
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension OMIM:615812
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage ORPHA:251992
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Subarachnoid hemorrhage, Transient ischemic attack, Hypertension ORPHA:231160
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Cerebral hemorrhage, Cerebral ischemia, L... ORPHA:136
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Hypertension OMIM:102200
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension ORPHA:251274
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevated circulating creatinine co... ORPHA:247691
Riboflavin Transporter Deficiency
Hypertension ORPHA:97229
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Sinus tachycardia, Right bundle branch block, Hypertension OMIM:614008
Liddle Syndrome 1
Hypertension OMIM:177200
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pulmonary arterial hypertension, Hypertension OMIM:608406
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension ORPHA:189427
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Hypertension OMIM:613623
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Hypertension, Cerebral ischemia, Vasculitis ORPHA:494424
Nephroblastoma
Hypertension ORPHA:654
Juvenile Paget Disease
Hypertension ORPHA:2801
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension OMIM:618620
Ochoa Syndrome
Hypertension ORPHA:2704
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Ischemic stroke, Nail bed telangiectasia, Lip telangiectasia, Hemate... OMIM:600376
Stiff Skin Syndrome
Hypertension ORPHA:2833
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Primary Pigmented Nodular Adrenocortical Disease
Hypertension ORPHA:189439
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:168000
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension ORPHA:231580
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Elevated circulating creatinine concentration, Hypertension OMIM:174000
Monosomy 18P
Hypertension ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension ORPHA:231632
Primary Lipodystrophy
Angina pectoris, Hypertension, Congestive heart failure, Cardiomyopathy ORPHA:90970
Gaucher Disease, Type I
Epistaxis, Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Mitral regurgita... OMIM:230800
Alagille Syndrome 2
Pulmonic stenosis, Hypertension OMIM:610205
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Trans... OMIM:301500
Joubert Syndrome 14
Hypertension OMIM:614424
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Elevated circulating creatinine concentration, Tachycardia, Orthostatic hypotension OMIM:223900
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Hypertension, Myocardial infarction, Congestive heart failur... ORPHA:183
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Lipodystrophy, Familial Partial, Type 3
Hypertension OMIM:604367
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Hypertension, Heart murmur, Left anterior fascicu... ORPHA:437572
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart failure ORPHA:525731
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Hypertension ORPHA:79126
Porphyria
Hypertension ORPHA:738
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hypertension OMIM:235400
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Hypertension, Telangiec... ORPHA:758
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:79083
Cushing Disease
Hypertension, Cardiomyopathy, Telangiectasia of the skin ORPHA:96253
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension OMIM:618886
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Congestive heart failure, Hypertensive crisis, Telangiectasia of... ORPHA:220393
Frasier Syndrome
Hypertension ORPHA:347
Buschke-Ollendorff Syndrome
Hypertension ORPHA:1306
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension OMIM:208060
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Cerebral ischemia, Hypertension OMIM:242900
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Hypertension OMIM:615474
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Congenital Hypothyroidism
Hypotension, Arrhythmia, Hypertension ORPHA:442
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Hypertension, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hy... ORPHA:1830
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension OMIM:610489
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hypertension OMIM:263200
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Nephronophthisis 1
Hypertension OMIM:256100
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Popov-Chang syndrome
Pulmonic stenosis, Hypertension OMIM:618428
Igg4-Related Retroperitoneal Fibrosis
Large vessel vasculitis, Renovascular hypertension, Elevated circulating creatinine concentration... ORPHA:49041
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Alagille Syndrome
Hypertension, Telangiectasia of the skin ORPHA:52
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Angina pectoris, Mitral regurgitati... ORPHA:324
Coach Syndrome 1
Portal hypertension, Hypertension OMIM:216360
Arterial Tortuosity Syndrome
Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Cardia... ORPHA:3342
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Hypertension OMIM:108050
Livedoid Vasculopathy
Ischemic stroke, Hypertension, Telangiectasia of the skin ORPHA:542643
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertension OMIM:203800
Bardet-Biedl Syndrome
Hypertension ORPHA:110
Werner Syndrome
Myocardial infarction, Congestive heart failure, Hypertension, Telangiectasia of the skin ORPHA:902
Carney Triad
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage ORPHA:139411
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Hypertension ORPHA:730
Acquired Generalized Lipodystrophy
Hypertension, Abnormal cardiovascular system physiology, Cardiomyopathy ORPHA:79086
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Telangiectasia, Hypertension OMIM:234100
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Hypertension, Hypertrophic cardiomyopathy OMIM:614052
Oligomeganephronia
Elevated circulating creatinine concentration, Hypertension ORPHA:2260
Caudal Regression Sequence
Hypertension ORPHA:3027
Poliomyelitis
Hypotension, Hypertension, Hypovolemic shock ORPHA:2912
Familial Bicuspid Aortic Valve
Heart murmur, Hypertension, Aortic valve stenosis, Aortic regurgitation ORPHA:402075
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension ORPHA:371428
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Aorta Coarctation
Pulmonary arterial hypertension, Congestive heart failure, Hypertension ORPHA:1457
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Brad... ORPHA:94093
Spondyloenchondrodysplasia
Vasculitis, Hypertension, Raynaud phenomenon ORPHA:1855
Alkaptonuria
Myocardial infarction, Aminoaciduria, Hypertension ORPHA:56
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hypertension ORPHA:449291
Renal Hypoplasia
Hypertension ORPHA:93101
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Hypertension, Aortic valve stenosis, Congestive heart failure, Mitral re... ORPHA:363618
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Familial Dysautonomia
Hypertension, Tachycardia, Orthostatic hypotension ORPHA:1764
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Adrenocortical Carcinoma
Palpitations, Hypertension ORPHA:1501
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Elevated circulating creatinine concentration, Hypertension ORPHA:90038
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Spider hemangioma, Hypertension OMIM:232240
Denys-Drash Syndrome
Hypertension OMIM:194080
Pituitary Adenoma 4, Acth-Secreting
Hypertension OMIM:219090
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Sickle Cell Anemia
Hypertension OMIM:603903
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Paragangliomas 4
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:115310
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hypertension, Dilated cardiomyopathy, Portal hypertension, Vasculitis, Raynaud phenomenon OMIM:615688
Lead Poisoning
Hypertension ORPHA:330015
Granulomatosis With Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Hypertension, ... ORPHA:900
Bardet-Biedl Syndrome 1
Hypertension OMIM:209900
Alport Syndrome 3, Autosomal Dominant
Hypertension OMIM:104200
Apert Syndrome
Hypertension ORPHA:87
Cockayne Syndrome Type 1
Hypertension ORPHA:90321
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy ORPHA:93473
Alexander Disease
Sudden cardiac death, Hypotension, Hypertension ORPHA:58
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Renal Agenesis
Hypertension ORPHA:411709
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:602535
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Posterior Urethral Valve
Hypertension ORPHA:93110
Seckel Syndrome 10
Congestive heart failure, Hypertension OMIM:617253
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Blau Syndrome
Pericarditis, Hypertension OMIM:186580
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613834
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Von Hippel-Lindau Syndrome
Hypertension OMIM:193300
Glycogen Storage Disease Ib
Hypertension OMIM:232220
Prader-Willi Syndrome
Hypertension ORPHA:739
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Alport Syndrome
Hypertension ORPHA:63
Orofaciodigital Syndrome I
Hypertension OMIM:311200
Hunter-Macdonald Syndrome
Mitral regurgitation, Hypertension, Aortic regurgitation OMIM:611962
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypertension ORPHA:90793
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Hypertension, Sudden cardiac death, Myocardi... ORPHA:391665
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hypertension ORPHA:567546
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension OMIM:202010
Lipodystrophy, Familial Partial, Type 2
Hypertension OMIM:151660
Myhre Syndrome
Hypertension ORPHA:2588
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Angina pectoris, Intracranial hemorrhage, Mitral regurgitation, Left ventri... ORPHA:740
Scalp-Ear-Nipple Syndrome
Hypertension OMIM:181270
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Cockayne Syndrome A
Arrhythmia, Hypertension OMIM:216400
Generalized Glucocorticoid Resistance Syndrome
Hypertension ORPHA:786
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:217085
Cockayne Syndrome B
Arrhythmia, Hypertension OMIM:133540
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:217093
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypertension, Myocarditis ORPHA:544482
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension ORPHA:95699
Mucopolysaccharidosis Type 2
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:580
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Myhre Syndrome
Aortic valve stenosis, Hypertension OMIM:139210
Cushing Syndrome Due To Ectopic Acth Secretion
Hypertensive crisis, Hypertension ORPHA:99889
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Epistaxis, Hypertension ORPHA:79259
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Acromegaly
Mitral regurgitation, Hypertension, Hypertrophic cardiomyopathy ORPHA:963
Somatomammotropinoma
Mitral regurgitation, Hypertension, Hypertrophic cardiomyopathy ORPHA:314769
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Hypertension OMIM:100300
Cockayne Syndrome
Retinal hemorrhage, Hypertension ORPHA:191
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hypertension, Gastrointestinal hemorrhage ORPHA:731
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
17Q11 Microdeletion Syndrome
Renovascular hypertension, Hypertension, Telangiectasia of the skin, Pulmonic stenosis, Pulmonary... ORPHA:97685
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy ORPHA:3472
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Hypertension, Melena ORPHA:652
Williams Syndrome
Renovascular hypertension, Hypertension, Sudden cardiac death, Myocardial infarction, Pulmonic st... ORPHA:904
Neurofibromatosis, Type I
Hypertension OMIM:162200
Atypical Werner Syndrome
Aortic valve stenosis, Congestive heart failure, Hypertension, Telangiectasia of the skin ORPHA:79474
Keutel Syndrome
Pulmonic stenosis, Hypertension OMIM:245150
Blau Syndrome
Pulmonary arterial hypertension, Large vessel vasculitis, Pericarditis, Hypertension ORPHA:90340
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99413
Turner Syndrome
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99228
Monosomy X
Myocardial infarction, Prolonged QT interval, Hypertension ORPHA:99226
Neurofibromatosis Type 1
Hypertension ORPHA:636
22Q11.2 Deletion Syndrome
Corneal neovascularization, Hypertensive crisis, Gastrointestinal hemorrhage ORPHA:567
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Pulmonary arterial hypertension,... ORPHA:51608
Williams-Beuren Syndrome
Hypertension, Pulmonic stenosis, Supravalvular aortic stenosis, Portal hypertension, Mitral regur... OMIM:194050
Carney Complex
Congestive heart failure, Hypertension associated with pheochromocytoma ORPHA:1359
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Renovascular hypertension, Hypertension, Telangiectasia of the skin, Transie... ORPHA:286
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary arterial hypertension, ... ORPHA:64

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 Agxt2

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 Agxt2.

No publications found that use IMPC mice or data for Agxt2.

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MGI Allele Allele Type Produced
Agxt2em1(IMPC)Hmgu Exon Deletion Mice
Agxt2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Agxt2tm42687(L1L2_gt0) Targeting vectors

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