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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
enlarged lymph nodes Art1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
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
increased basophil cell number Art1tm1b(EUCOMM)Wtsi HOM Early adult 8.03×10-07
increased thigmotaxis Art1tm1b(EUCOMM)Wtsi HOM   Early adult 7.57×10-05
abnormal behavior Art1tm1b(EUCOMM)Wtsi HOM   Early adult 7.57×10-05
abnormal skin morphology Art1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased exploration in new environment Art1tm1b(EUCOMM)Wtsi HOM Early adult 7.92×10-06
increased circulating alanine transaminase level Art1tm1b(EUCOMM)Wtsi HOM Early adult 8.35×10-06

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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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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly, Cognitive impairment ORPHA:172
Alpha-Heavy Chain Disease
Hypocalcemia, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Posttransplant Acute Limbic Encephalitis
Memory impairment, Depression, Confusion, Cognitive impairment, Hyponatremia ORPHA:163921
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De... ORPHA:100924
Central Diabetes Insipidus
Polydipsia, Hyponatremia, Depression, Anorexia ORPHA:178029
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum cre... OMIM:300539
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Anemia, Hemophagocyt... OMIM:267700
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Confusion, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:83601
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypo... OMIM:603553
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia OMIM:612526
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Depression, Hypocalcemia, Confusion, Hypocalcemic tetany, Hy... ORPHA:36913
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Addictive alco... ORPHA:1930
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia,... OMIM:613845
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Rhabdoid Tumor
Irritability, Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia ORPHA:69077
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Depression, Hypocalcemia, Hypocalcemic tetany, Hyperphosphat... ORPHA:94089
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia, Recurrent tonsillitis ORPHA:171876
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt... ORPHA:47
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, ... ORPHA:90362
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Snakebite Envenomation
Hyponatremia, Thrombocytopenia, Neuromuscular dysphagia, Pseudobulbar paralysis ORPHA:449285
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Whipple Disease
Polydipsia, Anorexia, Anemia, Mediastinal lymphadenopathy, Depression, Hyponatremia, Splenomegaly ORPHA:3452
Legionnaires Disease
Anorexia, Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, Splenomegaly, Lymphopenia ORPHA:549
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia ORPHA:682
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Granulomatous Slack Skin
Abnormal lymph node morphology, Hypercalcemia ORPHA:33111
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Adamantinoma
Hypercalcemia ORPHA:55881
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... ORPHA:1667
Cholera
Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Iron deficiency anemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Cognitive impairment OMIM:612462
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Mirage Syndrome
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia OMIM:617053
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Hypokalemia, Leukocytosis, Unconjugated hyperbilirubinemia, Reticulocytosis, Hypona... ORPHA:90038
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Polyphagia OMIM:606407
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Irritability, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Irritability, Hypernatremia OMIM:304800
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Splenomegaly, Hypophosphatemia, ... ORPHA:289157
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosin... ORPHA:199299
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Hypophosphatasia
Irritability, Hypercalcemia, Anemia ORPHA:436
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Osteopetrosis, Autosomal Recessive 5
Irritability, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia, Splenomegaly OMIM:617913
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Infant Botulism
Anorexia, Hyponatremia, Dysphagia ORPHA:178478
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Acute Adrenal Insufficiency
Anorexia, Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hypo... ORPHA:95409
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Shigellosis
Anorexia, Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolyt... ORPHA:810
Acute Intermittent Porphyria
Memory impairment, Depression, Confusion, Hyponatremia, Restlessness, Mental deterioration, Pseud... ORPHA:79276
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiecta... OMIM:235255
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Confusion, Increased circulating myelocyte count, Elevated circulating creatine kin... ORPHA:36234
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Inappropriate laughter, Mental deterioration, Cognitive impairment OMIM:618476
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Cogni... ORPHA:275761
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Addison Disease
Anorexia, Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hypo... ORPHA:85138
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Anemia ORPHA:97362
Autosomal Dominant Hypocalcemia
Depression, Emotional lability, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Depression, Hypocalcemia, Confusion, Polyphagia,... ORPHA:79444
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79473
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Depression, Hypocalcemia, Thrombocytosis OMIM:212750
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Timothy Syndrome
Hypocalcemia OMIM:601005
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Pul... ORPHA:1655
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Familial Glucocorticoid Deficiency
Anorexia, Hyponatremia, Hyperkalemia ORPHA:361
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Japanese Encephalitis
Anorexia, Hyponatremia, Neutrophilia, Cognitive impairment ORPHA:79139
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Panhypophysitis
Polydipsia, Hyponatremia, Normochromic anemia ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration, Cognitive impai... OMIM:610505
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia ORPHA:90791
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Bartter Syndrome Type 4
Hypokalemia, Emotional lability, Hypochloremia, Increased circulating renin level, Hyponatremia, ... ORPHA:89938
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Pituitary Apoplexy
Hyponatremia, Confusion, Normochromic anemia ORPHA:95613
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Cystinosis, Nephropathic
Polydipsia, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circula... OMIM:219800
Double Outlet Right Ventricle
Hypocalcemia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Depression, Hypocalcemia, Confusion, Polyphagia,... ORPHA:79443
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Confusion, Addictive alcohol use, Euphoria ORPHA:31826
Adenohypophysitis
Hyponatremia, Normochromic anemia ORPHA:95512
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Impulsivity, Hypernatremia, Thrombocytopenia, Hyperglycin... OMIM:620423
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Bone marrow hy... ORPHA:699
Hypophosphatasia, Infantile
Anorexia, Irritability, Anemia, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Elevated plasma citrulline, Hypertaurinemia, Hyperglutamatemi... ORPHA:3008
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia ORPHA:293978
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia, Brain... ORPHA:544482
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Anemia OMIM:127000
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Anemia, Hypercalcemia, Splenomegaly, Hypophosphatemia OMIM:239200
Velocardiofacial Syndrome
Emotional lability, Hypocalcemia, Aggressive behavior OMIM:192430
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Liver Disease, Severe Congenital
Irritability, Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalan... OMIM:619991
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Depression, Emotional lability, Hyperlipidemia, Compulsive behaviors, Polyphagia, Hyp... ORPHA:293987
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Depression, Compulsive behaviors, Hyponatremia, Thrombocytopenia, Hypophosph... ORPHA:534
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Increased serum bile acid concentration, Cognitive impairment, Hyponatremia, Hepatosp... ORPHA:731
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Cognitive impairment OMIM:103580
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Polyphagia, Episodic hemolytic anemia, Increased blood ure... ORPHA:251004
Hennekam Syndrome
Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Holoprosencephaly
Hyponatremia, Abnormality of the spleen, Cognitive impairment ORPHA:2162
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Thromb... ORPHA:466650
Familial Dysautonomia
Hyponatremia ORPHA:1764
Sheehan Syndrome
Hyponatremia, Normochromic anemia ORPHA:91355
Cartilage-Hair Hypoplasia
Hypocalcemia, Neutropenia, Anemia, Cognitive impairment ORPHA:175
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Osteopetrosis With Renal Tubular Acidosis
Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Bone marr... ORPHA:2785
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... ORPHA:168558
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... ORPHA:289548
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co... ORPHA:54251
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymph... OMIM:619381
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly... ORPHA:83471
Autosomal Recessive Malignant Osteopetrosis
Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia ORPHA:667
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivity disorder, ... ORPHA:476126
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... OMIM:248250
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Emotional lability, Hypocalcemia, Polyphagia, Fixated interests, Motor... OMIM:620330
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea... ORPHA:29073
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, S... ORPHA:358
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
22Q11.2 Deletion Syndrome
Depression, Hypocalcemia, Abnormality of the tonsils, Hypoplasia of the thymus, Thrombocytopenia,... ORPHA:567
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Low frustration tolerance, Impulsivity, Stereotypical body rocking, Hypomagnesemia,... OMIM:619503
Digeorge Syndrome
Anemia, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormal thymus m... OMIM:188400
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany ORPHA:93325
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Hyponatremia, Decreased circulating renin level OMIM:201750
Glucagonoma
Anorexia, Normochromic anemia, Depression, Hypercalcemia, Acanthocytosis ORPHA:97280
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Charge Syndrome
Hypocalcemia, Dysphagia, Lymphopenia, Aplasia/Hypoplasia of the thymus, Self-mutilation OMIM:214800
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior, Hypokalemia OMIM:219090
Vipoma
Anorexia, Normochromic anemia, Hypercalcemia, Hypokalemia ORPHA:97282
Pheochromocytoma
Hypercalcemia OMIM:171300
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Grfoma
Anorexia, Hypercalcemia, Neoplasm of the thymus ORPHA:97261
Somatostatinoma
Anorexia, Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Hartsfield Syndrome
Hypernatremia OMIM:615465
Sarcoidosis
Anemia, Lymphadenopathy, Abnormal lymph node morphology, Increased T cell count, Leukopenia, Hype... ORPHA:797
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Ppoma
Anorexia, Hypercalcemia ORPHA:97278
Multiple Endocrine Neoplasia Type 1
Anorexia, Depression, Confusion, Short attention span, Hypercalcemia, Thymoma ORPHA:652
Johanson-Blizzard Syndrome
Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration OMIM:243800
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Cervical lymphadenopathy ORPHA:653
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Anemia, Splenomegaly OMIM:612301
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Thymoma ORPHA:276152
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Williams Syndrome
Abnormal circulating lipid concentration, Depression, Elevated circulating creatine kinase concen... ORPHA:904
Williams-Beuren Syndrome
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Hypercalcemia, Short attent... OMIM:194050
Sotos Syndrome
Attention deficit hyperactivity disorder, Acute lymphoblastic leukemia, Hypercalcemia, Aggressive... 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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