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Gene: Sh3kbp1 MGI:1889583

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Gene Summary

Name:
SH3-domain kinase binding protein 1
Synonyms:
IN85,  1700125L08Rik,  Seta,  5830464D22Rik,  1200007H22Rik,  Ruk

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
increased defecation amount Sh3kbp1tm1Ivdi HOM Early adult 2.88×10-06
increased blood uric acid level Sh3kbp1tm1Ivdi HOM Early adult 2.66×10-05

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.

Phenotype associated images not available

Human diseases caused by Sh3kbp1 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 Sh3kbp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310

The table below shows human diseases predicted to be associated to Sh3kbp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Glycogen Storage Disease Ixb
Diarrhea, Hyperuricemia OMIM:261750
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Lesch-Nyhan Syndrome
Hyperuricemia ORPHA:510
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Xanthinuria, Type Ii
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia OMIM:603592
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperuricemia ORPHA:543
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Hyperuricemia, Hprt-Related
Hyperuricemia OMIM:300323
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:3222
Cystinuria
Hyperuricemia ORPHA:214
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation, Hyperuricemia ORPHA:261222
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Vomiting, Hyperuricemia, Hyperammonemia OMIM:246450
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Hereditary Fructose Intolerance
Diarrhea, Hypermagnesemia, Vomiting, Hyperuricemia, Constipation, Hypophosphatemia, Nausea ORPHA:469
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia ORPHA:348
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411536
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Hyperuricemia, Hyperammonemia ORPHA:134
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Diarrhea, Hyperkalemia, Constipation, Hyperuricemia ORPHA:199299
Lesch-Nyhan Syndrome
Vomiting, Hyperuricemia, Dysphagia OMIM:300322
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia ORPHA:411543
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... ORPHA:94093
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:203800
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Episodic vomiting, Hyperuricemia, Hyperammonemia ORPHA:20
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Hereditary Renal Hypouricemia
Hypouricemia, Vomiting, Nausea, Increased blood urea nitrogen ORPHA:94088
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Diarrhea, Hyperkalemia, Increased circulating renin level, Hyperuric... ORPHA:95409
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Glycogen Storage Disease Ia
Intermittent diarrhea, Hyperlipidemia, Hyperuricemia OMIM:232200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Molybdenum Cofactor Deficiency, Complementation Group C
Hypocystinemia, Hypouricemia, Hypertaurinemia OMIM:615501
Glycogen Storage Disease Ib
Hyperlipidemia, Hyperuricemia, Inflammation of the large intestine OMIM:232220
Addison Disease
Hyponatremia, Hypercalcemia, Diarrhea, Hyperkalemia, Increased circulating renin level, Hyperuric... ORPHA:85138
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Bicarbonaturia, Vomiting, Hyperuricemia, Hyperbilirubinemia, Hypopho... OMIM:229600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Diarrhea, Enterocolitis, Ulcerative colitis, Inflammation o... ORPHA:79259
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Hypomagnesemia 3, Renal
Hyperuricemia, Hypomagnesemia OMIM:248250
Glycogen Storage Disease Ic
Stomatitis, Hyperlipidemia, Hyperuricemia, Inflammation of the large intestine OMIM:232240
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia OMIM:300661
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Increased circulating inosine concen... OMIM:613179
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hyperuricemia ORPHA:93111
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Exocrine pancreatic insufficiency OMIM:137920
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Vomiting,... ORPHA:411634
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Cockayne Syndrome
Gastroesophageal reflux, Hyperuricemia ORPHA:191
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia ORPHA:760
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dysphagia, Hypoalbuminemia, High... OMIM:277900
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia OMIM:252150
Eisenmenger Syndrome
Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Elevated circulating C-reactive... ORPHA:97214
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892

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 Sh3kbp1

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 Sh3kbp1.

No publications found that use IMPC mice or data for Sh3kbp1.

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