Gene Summary

Name:
aspartoacylase (aminoacylase) 3
Synonyms:
AA3,  0610006H10Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Acy3em1(IMPC)J HOM Early adult 1.52×10-07
decreased circulating calcium level Acy3em1(IMPC)J HOM Early adult 2.56×10-08
abnormal cholesterol homeostasis Acy3em1(IMPC)J HOM   Early adult 8.69×10-05
decreased mean corpuscular hemoglobin concentration Acy3em1(IMPC)J HOM   Early adult 5.56×10-05
increased circulating creatinine level Acy3em1(IMPC)J HOM Early adult 1.94×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

X-ray

XRay Images Forepaw

6 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Acy3 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 Acy3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Azotemia, Familial
Azotemia OMIM:109160
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Adamantinoma
Hypercalcemia ORPHA:55881
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hemophagocytosis, Splenomegaly, He... OMIM:603553
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Ménétrier Disease
Hypochromic microcytic anemia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia OMIM:226300
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Kenny-Caffey Syndrome, Type 1
Anemia, Hypomagnesemia, Hypocalcemia OMIM:244460
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola... ORPHA:167
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia ORPHA:2315
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
X-Linked Agammaglobulinemia
Thrombocytopenia, Anemia, Hypocalcemia, Neutropenia ORPHA:47
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Timothy Syndrome
Hypocalcemia OMIM:601005
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... ORPHA:31824
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... ORPHA:90041
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... ORPHA:94093
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... ORPHA:36234
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... ORPHA:411634
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Thrombocytopenia OMIM:608104
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis OMIM:212750
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Aminoaciduria, Hyperbilirubinemia, Hy... OMIM:619991
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hyperaldosteronism, Hypocalcemic tetany ORPHA:73224
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Aminoaciduria, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Neutropenia, Steatorrhea, Splenomega... ORPHA:699
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, Elliptocytosis, Pan... ORPHA:2785
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponat... ORPHA:199299
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:163979
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron de... OMIM:618885
Cartilage-Hair Hypoplasia
Anemia, Hypocalcemia, Neutropenia ORPHA:175
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Leukocytosis, Hemolytic anemia, Hyponatremia, Thrombocytopenia, Hyperkalemia ORPHA:544482
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Pierson Syndrome
Hypoproteinemia OMIM:609049
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Normocytic anemia, Increased circulating renin level, Hypon... ORPHA:95409
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste... ORPHA:85450
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... ORPHA:466650
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Primary hyperaldosteronism, Hy... ORPHA:358
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia ORPHA:667
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Normocytic anemia, Normochromic anemia ORPHA:247691
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia, Pancytopenia, Anemia OMIM:613658
Mastocytosis
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia ORPHA:98292
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Hypercalcemia OMIM:602080
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Addison Disease
Decreased circulating cortisol level, Normocytic anemia, Increased circulating renin level, Hypon... ORPHA:85138
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... ORPHA:83471
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hypercalcemia, Hy... ORPHA:88673
Juvenile Polyposis Syndrome
Anemia, Hypoproteinemia ORPHA:2929
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Splenomegaly, Thrombocytopenia ORPHA:567
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... ORPHA:340
Glucagonoma
Increased circulating cortisol level, Steatorrhea, Acanthocytosis, Hypercalcemia, Normochromic an... ORPHA:97280
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Vipoma
Hypokalemia, Normochromic anemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Somatostatinoma
Increased circulating cortisol level, Hypochromic microcytic anemia, Hypercalcemia, Steatorrhea ORPHA:97283
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Pheochromocytoma
Hypercalcemia OMIM:171300
Digeorge Syndrome
Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Anemia, Thrombocytopenia OMIM:188400
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Shwachman-Diamond Syndrome 1
Neutropenia, Steatorrhea, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Ac... OMIM:260400
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Lead Poisoning
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... ORPHA:330015
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Hypomagnesemia, Hypocalcemia, Hepatosplenomegaly OMIM:619503
Osteopetrosis, Autosomal Recessive 7
Anemia, Hypocalcemic seizures, Splenomegaly OMIM:612301
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Yellow Fever
Neutrophilia, Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentratio... ORPHA:99829
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:449395
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Aminoaciduria, Normocytic anemia, Elevated... ORPHA:91500
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Charge Syndrome
Hypocalcemia, Lymphopenia OMIM:214800
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia OMIM:243800
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:301040
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... OMIM:619534
Sarcoidosis
Eosinophilia, Leukopenia, Hemolytic anemia, Hypercalcemia, Anemia, Thrombocytopenia, Increased T ... ORPHA:797
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level ORPHA:652
Williams Syndrome
Elevated circulating creatine kinase concentration, Hypercalcemia, Abnormal circulating lipid con... ORPHA:904
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia 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 Acy3

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 Acy3.

No publications found that use IMPC mice or data for Acy3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Acy3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Acy3em1(IMPC)J Exon Deletion Mice

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