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Gene: Stxbp3 MGI:107362

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
syntaxin binding protein 3
Synonyms:
Munc-18c,  Stxbp3a,  Stxbp3

Order Alleles

IMPC Data Collections

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

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.

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 Stxbp3 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 Stxbp3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
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 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty ORPHA:140941
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Essential Fructosuria
Hyperglycemia ORPHA:2056
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia OMIM:608600
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... OMIM:612526
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:79085
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Hepatic steatosis OMIM:615980
Cole Disease
Hyperglycemia OMIM:615522
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp... OMIM:246200
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Placental Insufficiency
Insulin resistance ORPHA:439167
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435660
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... ORPHA:79083
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Abnormal h... ORPHA:2088
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Diabetes mellitus, Insulin resistance, Male hypogonadism, Hepatic steatosis OMIM:615381
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:2348
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Insulin resistance, Hypoglycemia ORPHA:73272
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism ORPHA:90065
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Dend Syndrome
Hyperglycemia ORPHA:79134
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... ORPHA:99885
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia ORPHA:440713
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia OMIM:615935
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Silver-Russell Syndrome
Precocious puberty, Insulin resistance, Hyperhidrosis, Recurrent hypoglycemia, Premature adrenarche ORPHA:813
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... ORPHA:435651
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal... ORPHA:280365
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Whipple Disease
Splenomegaly, Hepatomegaly, Insulin resistance, Hypothyroidism ORPHA:3452
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis OMIM:613327
Werner Syndrome
Hypogonadism, Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus ORPHA:902
Monosomy 13Q34
Insulin resistance, Hepatic steatosis ORPHA:96168
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus, Hypothyroidism OMIM:616541
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Delayed puberty ORPHA:90154
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, R... ORPHA:508
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Precocious puberty, Insulin resistance, Hy... ORPHA:96182
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Type II diabetes mellitus ORPHA:91
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recurrent hypoglycemia,... OMIM:124000
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Hyperhidrosis, Parathyroid adeno... ORPHA:358
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance ORPHA:90153
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... OMIM:600001
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Scorpion Envenomation
Hyperhidrosis, Hyperglycemia, Acute pancreatitis, Glycosuria ORPHA:466677
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:444077
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type... OMIM:606721
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid dro... OMIM:220111
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Delayed menarche, Pubertal devel... ORPHA:740
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... 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 Stxbp3

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 Stxbp3.

No publications found that use IMPC mice or data for Stxbp3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Stxbp3tm77548(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Stxbp3em1(IMPC)Ccpcz Exon Deletion Mice

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