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Gene: Sbk2 MGI:2685925

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Gene Summary

Name:
SH3-binding domain kinase family, member 2
Synonyms:
LOC381836

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 serum albumin level Sbk2em1(IMPC)Bay HOM Early adult 5.48×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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.

X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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Human diseases caused by Sbk2 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 Sbk2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Diarrhea 13
Hypoalbuminemia OMIM:620357
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Leishmaniasis
Hypoalbuminemia ORPHA:507
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Decrease... ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul... ORPHA:14
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentration, Hyp... OMIM:222470
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypoalbuminemia, Abnormal circulating fatty-acid concen... ORPHA:2298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, High nonceru... OMIM:277900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia OMIM:270400
Kawasaki Disease
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2331
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin ORPHA:79318

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 Sbk2

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 Sbk2.

No publications found that use IMPC mice or data for Sbk2.

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MGI Allele Allele Type Produced
Sbk2em1(IMPC)Bay Exon Deletion Mice

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