Gene Summary

Name:
sterile alpha motif domain containing 3
Synonyms:
LOC268288

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
increased blood urea nitrogen level Samd3em1(IMPC)H HOM Early adult 1.20×10-06
increased circulating cholesterol level Samd3em1(IMPC)H HOM Early adult 2.45×10-05

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Samd3 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 Samd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Azotemia, Familial
Azotemia OMIM:109160
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Immunodeficiency 8
Lymphopenia OMIM:615401
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia OMIM:618108
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in presence of anti-neutrop... ORPHA:443811
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... ORPHA:331206
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Absent plat... OMIM:608233
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Abnormal ... ORPHA:221139
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Laron Syndrome
Hypercholesterolemia ORPHA:633
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... ORPHA:79124
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Anemia... OMIM:619381
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... OMIM:606367
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... ORPHA:508533
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decrea... ORPHA:447
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism ORPHA:534
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Ataxia-Telangiectasia
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... OMIM:208900
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, T... ORPHA:83471
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia OMIM:607944
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Agammaglobulinemia, X-Linked
Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia OMIM:300755
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534

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 Samd3

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 Samd3.

No publications found that use IMPC mice or data for Samd3.

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MGI Allele Allele Type Produced
Samd3tm172302(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Samd3em1(IMPC)H Exon Deletion Mice

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