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Gene: Art1 MGI:107511

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Gene Summary

Name:
ADP-ribosyltransferase 1
Synonyms:
Yac-1,  ADPRT

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Art1tm1b(EUCOMM)Wtsi HOM Early adult 8.03×10-07
decreased grip strength Art1tm1b(EUCOMM)Wtsi HOM Early adult 9.16×10-07
decreased circulating sodium level Art1tm1b(EUCOMM)Wtsi HOM Early adult 7.08×10-06
decreased circulating calcium level Art1tm1b(EUCOMM)Wtsi HOM Early adult 1.51×10-06
abnormal skin morphology Art1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating alanine transaminase level Art1tm1b(EUCOMM)Wtsi HOM Early adult 8.35×10-06
abnormal behavior Art1tm1b(EUCOMM)Wtsi HOM   Early adult 4.71×10-05
increased thigmotaxis Art1tm1b(EUCOMM)Wtsi HOM   Early adult 7.57×10-05
enlarged lymph nodes Art1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased exploration in new environment Art1tm1b(EUCOMM)Wtsi HOM Early adult 7.92×10-06

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Art1 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 Art1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Cognitive impairment, Hypocalcemia ORPHA:172
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Posttransplant Acute Limbic Encephalitis
Memory impairment, Depression, Confusion, Hyponatremia, Cognitive impairment ORPHA:163921
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Abnormal circulating porphyrin concentrati... ORPHA:100924
Central Diabetes Insipidus
Hyponatremia, Depression, Polydipsia, Anorexia ORPHA:178029
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Irritability, Reduced blood urea nitrogen, Decre... OMIM:300539
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Confusion, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:83601
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypoca... ORPHA:36913
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ... ORPHA:1930
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level ORPHA:171876
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:94089
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Rhabdoid Tumor
Irritability, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elev... ORPHA:94093
X-Linked Agammaglobulinemia
Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils, Neutropenia, Throm... ORPHA:47
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, Hypocalcemia, Abnormal... ORPHA:90362
Whipple Disease
Depression, Polydipsia, Splenomegaly, Hyponatremia, Anorexia, Anemia, Mediastinal lymphadenopathy ORPHA:3452
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Legionnaires Disease
Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Hyponatremia, Lymphadenopathy, Anorexia ORPHA:549
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anorexia, Anemia OMIM:175500
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Adamantinoma
Hypercalcemia ORPHA:55881
Cholera
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho... ORPHA:1667
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment, Hypocalcemia OMIM:612462
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Mirage Syndrome
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen OMIM:617053
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Irritability OMIM:304800
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Irritability, Hypophosphatemia, Hyp... ORPHA:289157
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Alg8-Cdg
Hyponatremia, Anemia, Thrombocytopenia ORPHA:79325
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Anorexia, Hyperc... ORPHA:199299
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability OMIM:264700
Hypophosphatasia
Anemia, Hypercalcemia, Irritability ORPHA:436
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Splenomegaly,... OMIM:259720
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Infant Botulism
Hyponatremia, Dysphagia, Anorexia ORPHA:178478
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcem... ORPHA:95409
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circulating prealbumin con... ORPHA:37042
Shigellosis
Microangiopathic hemolytic anemia, Leukocytosis, Abscess, Hyponatremia, Splenic abscess, Thromboc... ORPHA:810
Acute Intermittent Porphyria
Mental deterioration, Memory impairment, Depression, Pseudobulbar paralysis, Confusion, Hyponatre... ORPHA:79276
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Thyroid lymphangiectasia, Pulmonary lymp... OMIM:235255
Addison Disease
Normocytic anemia, Thymoma, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia... ORPHA:85138
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Confusion, Elevated circulating creatinine concentration, Hypocalcemia, Abscess,... ORPHA:36234
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Inappropriate laughter, Cognitive impairment, Hypocalcemia OMIM:618476
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Hypercholesterolemia, Co... ORPHA:275761
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Renal Hypoplasia, Bilateral
Hyponatremia, Anemia, Hyperkalemia ORPHA:97362
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyph... ORPHA:79444
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Porphyria Variegata
Hyponatremia, Anemia, Abnormal circulating porphyrin concentration ORPHA:79473
Celiac Disease, Susceptibility To, 1
Depression, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis OMIM:212750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Timothy Syndrome
Hypocalcemia OMIM:601005
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia, Anorexia ORPHA:361
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Pulmonary lymphangie... ORPHA:1655
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Japanese Encephalitis
Hyponatremia, Cognitive impairment, Neutrophilia, Anorexia ORPHA:79139
Bartter Syndrome Type 4
Hypomagnesemia, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... ORPHA:89938
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Panhypophysitis
Hyponatremia, Polydipsia, Normochromic anemia ORPHA:95513
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Cognitive impairment, Elevated circulating creatine kinase concentr... OMIM:610505
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Pituitary Apoplexy
Hyponatremia, Confusion, Normochromic anemia ORPHA:95613
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lymphocytopenia ORPHA:79324
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke... OMIM:219800
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Ethylene Glycol Poisoning
Confusion, Hypocalcemia, Euphoria, Addictive alcohol use, Hyperkalemia ORPHA:31826
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Confusion, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyph... ORPHA:79443
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Agitation, Irritability, Hyperactivity, Thrombocytopenia, Impulsi... OMIM:620423
Pearson Syndrome
Bone marrow hypocellularity, Hypomagnesemia, Pancytopenia, Hypocalcemia, Splenomegaly, Reticulocy... ORPHA:699
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Irritability, Anorexia, Anemia, Hypercalcemia OMIM:241500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Severe B lymphocytopenia ORPHA:293978
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H... ORPHA:3008
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolyti... ORPHA:544482
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Hyperparathyroidism, Neonatal Severe
Polydipsia, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Velocardiofacial Syndrome
Aggressive behavior, Emotional lability, Hypocalcemia OMIM:192430
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Hyperlipidemia, Emotional lability, Hyponatremia... ORPHA:293987
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Hyponatremia, Hypokalemia, Attention deficit hyperactivity d... ORPHA:534
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Short attention spa... OMIM:619991
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentrat... ORPHA:731
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Hennekam Syndrome
Lymphopenia, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma ORPHA:2136
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Polyphagia, Episodic hemolytic anemia, Increased blood ure... ORPHA:251004
Holoprosencephaly
Hyponatremia, Abnormality of the spleen, Cognitive impairment ORPHA:2162
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pure red cell aplasia, Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune... OMIM:613179
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Familial Dysautonomia
Hyponatremia ORPHA:1764
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, T... ORPHA:466650
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Sheehan Syndrome
Hyponatremia, Normochromic anemia ORPHA:91355
Cartilage-Hair Hypoplasia
Anemia, Cognitive impairment, Neutropenia, Hypocalcemia ORPHA:175
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Depression, Hypercalcemia OMIM:600740
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatin... ORPHA:2785
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Follic... OMIM:619381
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... ORPHA:83471
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypocalcemia, Hypophosphatemia, Lymphadenopathy, Anemia ORPHA:667
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Co... ORPHA:476126
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Emotional lability, Hypocalcemia, Hair-pulling, Polyp... OMIM:620330
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei... ORPHA:29073
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving, Iron defici... ORPHA:358
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia, Polydipsia OMIM:617994
22Q11.2 Deletion Syndrome
Depression, Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Attention deficit hyperactivity... ORPHA:567
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Bruxism, Stereotypical body rocking, Hepatosplenomegaly, Hemolytic anemia, Low fr... OMIM:619503
Digeorge Syndrome
Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Attention deficit hyperactivity disorder, A... OMIM:188400
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Irritability OMIM:277440
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Glucagonoma
Depression, Acanthocytosis, Anorexia, Hypercalcemia, Normochromic anemia ORPHA:97280
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Charge Syndrome
Aplasia/Hypoplasia of the thymus, Lymphopenia, Hypocalcemia, Self-mutilation, Dysphagia OMIM:214800
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia, Anorexia ORPHA:97282
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Pheochromocytoma
Hypercalcemia OMIM:171300
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia ORPHA:99880
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia ORPHA:143
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Grfoma
Neoplasm of the thymus, Hypercalcemia, Anorexia ORPHA:97261
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia, Anorexia ORPHA:97283
Hartsfield Syndrome
Hypernatremia OMIM:615465
Sarcoidosis
Abnormal lymph node morphology, Hemolytic anemia, Leukopenia, Increased T cell count, Eosinophili... ORPHA:797
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Multiple Endocrine Neoplasia Type 1
Thymoma, Depression, Confusion, Short attention span, Anorexia, Hypercalcemia ORPHA:652
Johanson-Blizzard Syndrome
Splenomegaly, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Multiple Endocrine Neoplasia Type 2
Cervical lymphadenopathy, Hypercalcemia ORPHA:653
Osteopetrosis, Autosomal Recessive 7
Anemia, Hypocalcemic seizures, Splenomegaly OMIM:612301
Multiple Endocrine Neoplasia Type 4
Thymoma, Hypercalcemia ORPHA:276152
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Williams Syndrome
Depression, Abnormal circulating lipid concentration, Overfriendliness, Elevated circulating crea... ORPHA:904
Williams-Beuren Syndrome
Attention deficit hyperactivity disorder, Hypercalcemia, Short attention span, Obsessive-compulsi... OMIM:194050
Sotos Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Acute lymphoblastic leukemia, Hype... ORPHA:821

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 Art1

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 Art1.

No publications found that use IMPC mice or data for Art1.

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
Art1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Art1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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