Gene Summary

Name:
diazepam binding inhibitor-like 5
Synonyms:
ELP

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 circulating alkaline phosphatase level Dbil5tm1(KOMP)Wtsi HOM Early adult 7.57×10-07
increased circulating glucose level Dbil5tm1(KOMP)Wtsi HOM Early adult 4.98×10-05
increased circulating total protein level Dbil5tm1(KOMP)Wtsi HOM   Early adult 1.07×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
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 Dbil5 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 Dbil5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp... ORPHA:90041
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Essential Fructosuria
Hyperglycemia ORPHA:2056
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Dengue Fever
Hypoproteinemia ORPHA:99828
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia ORPHA:2315
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Leptospirosis
Hyperproteinemia ORPHA:509
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... ORPHA:2298
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Omenn Syndrome
Hypoproteinemia OMIM:603554
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:465508
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... OMIM:227810
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia ORPHA:134
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Pierson Syndrome
Hypoproteinemia OMIM:609049
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... ORPHA:79102
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Leprechaunism
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... ORPHA:508
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... ORPHA:466677
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia OMIM:124000
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Atypical Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia ORPHA:293987
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:220111
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001

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 Dbil5

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 Dbil5.

No publications found that use IMPC mice or data for Dbil5.

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MGI Allele Allele Type Produced
Dbil5tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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