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Gene: Lin52 MGI:3045391

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Gene Summary

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

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
decreased circulating calcium level Lin52em1(IMPC)J HET   Early adult 5.59×10-05
preweaning lethality, complete penetrance Lin52em1(IMPC)J HOM   Early adult 0.00
increased mean corpuscular volume Lin52em1(IMPC)J HET Early adult 1.83×10-06

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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 Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Forepaw

9 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

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

8 Images

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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
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Adamantinoma
Hypercalcemia ORPHA:55881
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
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, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia ORPHA:47
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Timothy Syndrome
Hypocalcemia OMIM:601005
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... ORPHA:37042
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia OMIM:212750
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok... ORPHA:699
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
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
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... ORPHA:2785
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia ORPHA:544482
Cartilage-Hair Hypoplasia
Hypocalcemia, Anemia, Neutropenia ORPHA:175
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
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
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia ORPHA:667
Gitelman Syndrome
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... ORPHA:160
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures ORPHA:93325
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Hennekam Syndrome
Splenomegaly, Lymphopenia, Hypocalcemia ORPHA:2136
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia ORPHA:567
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia OMIM:619503
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Digeorge Syndrome
Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia OMIM:188400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Pheochromocytoma
Hypercalcemia OMIM:171300
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Glucagonoma
Normochromic anemia, Hypercalcemia, Acanthocytosis ORPHA:97280
Charge Syndrome
Lymphopenia, Hypocalcemia OMIM:214800
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Osteopetrosis, Autosomal Recessive 7
Anemia, Splenomegaly, Hypocalcemic seizures OMIM:612301
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Ppoma
Hypercalcemia ORPHA:97278
Sarcoidosis
Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen... ORPHA:797
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase 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 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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