Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sphingomyelin synthase 2
Synonyms:
4933405A16Rik,  5133401H06Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Sgms2 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.

The table below shows human diseases associated to Sgms2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Calvarial Doughnut Lesions With Bone Fragility
Elevated circulating alkaline phosphatase concentration OMIM:126550

The table below shows human diseases predicted to be associated to Sgms2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Increased alpha-globulin OMIM:235900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Hepatomegaly, ... OMIM:232700
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insuli... ORPHA:2457
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Hepatomegaly, Hypertriglyceridemia, Sea-blue histiocytosis, Splenomegaly,... OMIM:607616
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis, Type II diabetes mellitus OMIM:246650
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Hepatomegaly, Hypert... OMIM:603552
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Decreased circulating antibody le... OMIM:300635
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Papular Xanthoma
Histiocytosis ORPHA:158008
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy OMIM:613877
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Elevated hepatic transaminase, Hypoketotic hypoglycemi... ORPHA:26793
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Leishmaniasis
Elevated hepatic transaminase, Increased circulating antibody level, Abnormal macrophage morpholo... ORPHA:507
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Elevated total serum tryptase ORPHA:157991
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resis... ORPHA:79085
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Elevated hepatic transaminase, De... ORPHA:540
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... OMIM:616278
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Increased adipose tissue aro... ORPHA:435660
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Pancytopenia, Splenomegaly, Hyperlipidemia ORPHA:79477
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Decreased beta-galactosidase activity OMIM:230600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyc... ORPHA:435651
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Hepatomegaly, Hepatic failure, Splenomegaly, Anemia ORPHA:75233
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit... ORPHA:292
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Niemann-Pick Disease, Type C1
Fatal liver failure in infancy, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice... OMIM:257220
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Hepatomegaly, Pancytopenia, Aplastic anem... OMIM:615122
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Leukopenia... ORPHA:470
Nephrosialidosis
Bone-marrow foam cells OMIM:256150
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Elevated circulating creatine kinase concentration, Abnormal macrophage morphology ORPHA:353
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Neutropenia, Pancytopenia, ... ORPHA:167
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Elevated circulating alanine aminotransferase concentr... OMIM:257200
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Spleno... OMIM:607625
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Fatal liver failure in infancy, Bone-marrow foam cells, Microv... ORPHA:275761
Seckel Syndrome 10
Glucose intolerance, Insulin resistance, Hepatic steatosis, Impaired glucose tolerance, Elevated ... OMIM:617253
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Hepatomegaly, Pancytopenia, Throm... OMIM:259720
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Elevated hepatic transaminase, Hyperbilirubinemia, Jaundice, C... ORPHA:39812
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Vacuolated lymphocytes, Splenomegaly OMIM:256550
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Decreased activity of NADPH oxidase, Rectal abscess, Hepatomegaly, Sple... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Decreased activity of NADPH oxidase, Rectal abscess, Hepatomegaly, Sple... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Decreased activity of NADPH oxidase, Rectal abscess, Hepatomegaly, Sple... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Decreased activity of NADPH oxidase, Rectal abscess, Hepatomegaly, Sple... OMIM:306400
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Intraalveolar phospholipid accumu... OMIM:222700
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Decreased circulating antibody level, Biliary cirrhosis, Hepatitis, ... ORPHA:227990
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
H Syndrome
Hypertriglyceridemia, Histiocytosis, Hepatosplenomegaly, Microcytic anemia ORPHA:168569
Autoimmune Polyendocrinopathy Type 3
Autoimmune thrombocytopenia, Decreased circulating antibody level, Biliary cirrhosis, Hepatitis, ... ORPHA:227982
Listeriosis
Abscess, Splenic abscess, Jaundice, Cholecystitis, Abnormal cellular immune system morphology, Br... ORPHA:533
Niemann-Pick Disease Type C
Bone-marrow foam cells, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Hepatosplenomegaly... ORPHA:646
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Histiocytosis, Hepatosplenomegaly, Splenomegaly OMIM:602782
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Granulomatosis ORPHA:900
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Calvarial Doughnut Lesions With Bone Fragility
Elevated circulating alkaline phosphatase concentration OMIM:126550

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 Sgms2

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 Sgms2.

No publications found that use IMPC mice or data for Sgms2.

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MGI Allele Allele Type Produced
Sgms2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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