Gene Summary

Name:
lin-52 DREAM MuvB core complex component
Synonyms:
5830457H20Rik

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
preweaning lethality, complete penetrance Lin52em1(IMPC)J HOM   Early adult 0.00
decreased circulating calcium level Lin52em1(IMPC)J HET   Early adult 5.59×10-05
increased mean corpuscular volume Lin52em1(IMPC)J HET Early adult 1.93×10-06

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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

9 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Lin52 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 Lin52 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... OMIM:206100
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... ORPHA:90044
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Adamantinoma
Hypercalcemia ORPHA:55881
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Increase... OMIM:615234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... OMIM:616860
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Stomato... OMIM:185000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Anemia ORPHA:100025
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Refractory Celiac Disease
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... ORPHA:398063
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Splenomegaly OMIM:612526
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Decreased tra... ORPHA:300298
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intermediate Osteopetrosis
Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:210110
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular volume, Hyperhomocystine... OMIM:277410
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Majeed Syndrome
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... OMIM:609628
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Hyperhomocystinemia, Pancytopenia, Hypometh... ORPHA:2169
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Decrease... OMIM:616959
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... OMIM:206200
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Anemia, Increased ser... OMIM:615517
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Albers-Sch├Ânberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia, Anemia OMIM:175500
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... ORPHA:86839
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... ORPHA:90362
X-Linked Agammaglobulinemia
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia ORPHA:47
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Osteopetrosis, Autosomal Recessive 1
Anemia, Thrombocytopenia, Hypocalcemia, Pancytopenia, Splenomegaly OMIM:259700
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Colchicine Poisoning
Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... OMIM:617052
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... OMIM:127550
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... OMIM:259720
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Timothy Syndrome
Hypocalcemia OMIM:601005
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentratio... ORPHA:94093
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94089
Oculoskeletodental Syndrome
Hypocalcemia, Splenomegaly, Hypercalcemia OMIM:618440
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Thromb... ORPHA:36234
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly OMIM:235255
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis OMIM:617913
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:79444
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Anemia, Splenomegaly, Calcinosis OMIM:239200
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Splenomegaly ORPHA:1655
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Pearson Syndrome
Hypoplastic spleen, Reticulocytosis, Hypophosphatemia, Anemia, Hyperalaninemia, Hypokalemia, Thro... ORPHA:699
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:79443
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Osteopetrosis With Renal Tubular Acidosis
Elliptocytosis, Leukopenia, Anemia, Elevated circulating creatine kinase concentration, Thrombocy... ORPHA:2785
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:163979
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Hyperkalemia, Thrombocytopenia, Hypocalcemia, Hyponatremia ORPHA:544482
Cartilage-Hair Hypoplasia
Neutropenia, Hypocalcemia, Anemia ORPHA:175
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Isotretinoin-Like Syndrome
Hypocalcemia, Lymphopenia ORPHA:2306
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Normocytic anemia, Macrocytic anemia, Eosinophilia, Hyperkalemia, Hyponatremia, Hy... ORPHA:199299
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Splenomegaly, Hypophosphatemia, Anemia ORPHA:667
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Gitelman Syndrome
Hypermagnesemia, Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypomagnesemia ORPHA:358
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Thrombocytop... ORPHA:466650
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hypoalbuminemia OMIM:613658
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Mastocytosis
Chronic leukemia, Acute leukemia, Mastocytosis, Splenomegaly, Hypercalcemia ORPHA:98292
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany, Anemia ORPHA:93325
Eisenmenger Syndrome
Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Increased mean corpuscular volu... ORPHA:97214
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, H... ORPHA:83471
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... OMIM:619991
Hepatocellular Carcinoma
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocytosis, Hyponatr... ORPHA:88673
Multiple Myeloma
Anemia, Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Thrombocytopenia, Hypocalcemia, Splenomegaly ORPHA:567
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Acute Adrenal Insufficiency
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Hyponatremia, ... ORPHA:95409
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Addison Disease
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Thiamine-respo... ORPHA:85138
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hypocalcemia, Hemolytic anemia, Hypomagnesemia OMIM:619503
Digeorge Syndrome
Hypoplasia of the thymus, Anemia, Thrombocytopenia, Hypocalcemia, Splenomegaly OMIM:188400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Pheochromocytoma
Hypercalcemia OMIM:171300
Bartter Syndrome, Type 1, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... OMIM:601678
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia ORPHA:97282
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets ORPHA:289176
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Glucagonoma
Hypercalcemia, Normochromic anemia, Acanthocytosis ORPHA:97280
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Charge Syndrome
Hypocalcemia, Lymphopenia OMIM:214800
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Splenomegaly, Anemia OMIM:612301
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:243800
Ppoma
Hypercalcemia ORPHA:97278
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Sarcoidosis
Hypercalcemia, Leukopenia, Hemolytic anemia, Anemia, Eosinophilia, Thrombocytopenia, Increased T ... ORPHA:797
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Hyp... 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 Lin52

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 Lin52.

No publications found that use IMPC mice or data for Lin52.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lin52em1(IMPC)J Exon Deletion Mice

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