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Gene: Insyn2b MGI:3643491

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Gene Summary

Name:
inhibitory synaptic factor family member 2B
Synonyms:
Fam196b,  Gm6041

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 leukocyte cell number Insyn2bem1(IMPC)J HOM Early adult 6.39×10-07
increased circulating alanine transaminase level Insyn2bem1(IMPC)J HOM Early adult 2.27×10-05
hyperactivity Insyn2bem1(IMPC)J HOM   Early adult 3.68×10-08
decreased circulating phosphate level Insyn2bem1(IMPC)J HOM Early adult 4.83×10-06
increased circulating glucose level Insyn2bem1(IMPC)J HOM Early adult 1.24×10-08

Download data as:  TSV  XLS

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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.

Electrocardiogram (ECG)

Waveform Image

16 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Insyn2b 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 Insyn2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... OMIM:618858
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... OMIM:606176
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Anemia OMIM:238700
Refractory Celiac Disease
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... ORPHA:398063
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia, Hyperlipidemia ORPHA:329249
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Blue Diaper Syndrome
Hyperphosphatemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess ORPHA:89937
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hypouricemia OMIM:616026
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Diabetes mellitus, Postprandial hypergl... ORPHA:2088
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Cystinosis
Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Polydipsia ORPHA:213
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Hypophosphatemia OMIM:134600
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... ORPHA:31824
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Hyperparathyroidism, Neonatal Severe
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Splenomegaly, Polydipsia OMIM:239200
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Fanconi-Bickel Syndrome
Glycosuria, Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Glycine Encephalopathy
Restlessness, Impulsivity, Hyperactivity, Hyperglycinemia OMIM:605899
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c... OMIM:619743
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Fanconi Renotubular Syndrome 2
Glycosuria, Hypophosphatemia OMIM:613388
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... OMIM:604367
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... ORPHA:552
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulatin... ORPHA:411634
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Reactive hypoglycemia, Hypermagnesemia ORPHA:469
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Polydipsia ORPHA:411629
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Pearson Syndrome
Anemia, Hyperalaninemia, Glycosuria, Hypokalemia, Hypophosphatemia, Reticulocytosis, Pancytopenia... ORPHA:699
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypoglycemia, Hypophosphat... ORPHA:3337
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Mildly elevated creatine kinase ORPHA:681
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Dent Disease 1
Glycosuria, Hypophosphatemia OMIM:300009
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Agitation, Elevated circulating creatine kinase c... ORPHA:94093
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia ORPHA:2089
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Glycosuria, Hypophosphatemia, Decreased plasma carnitine, Hypokalemi... OMIM:219800
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hereditary Chronic Pancreatitis
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Hyperinsulinemia, Fasting hypoglycemia, Dia... ORPHA:2298
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Neutro... ORPHA:391673
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Fructose Intolerance, Hereditary
Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Hypoglycemia, Bicarbonaturia OMIM:229600
Beta-Ketothiolase Deficiency
Oral aversion, Hyperuricemia, Agitation, Hypoglycemia, Hyperammonemia, Thrombocytosis, Leukocytos... ORPHA:134
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Fibrous Dysplasia Of Bone
Diabetes mellitus, Hypophosphatemia, Hypercalcemia ORPHA:249
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Opsismodysplasia
Hypophosphatemia OMIM:258480
Mccune-Albright Syndrome
Hypophosphatemia, Pancytopenia ORPHA:562
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Eosinophi... ORPHA:2070
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia ORPHA:99880
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... OMIM:615812
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia, Hyperactivity OMIM:618314
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia ORPHA:143
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Alcoholism, Leukocytosis, Hypercholesterolemia ORPHA:90065
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... ORPHA:760
Dent Disease
Glycosuria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Bardet-Biedl Syndrome 9
Hyperglycemia, Polyphagia, Polydipsia OMIM:615986
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Raine Syndrome
Hypophosphatemia OMIM:259775
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hyponatremia, Hypokalemia, Hypophosphatemia, Attention deficit hyperactivity disorder, Hy... ORPHA:534
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess ORPHA:289176
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Splenomegaly, Anemia ORPHA:667
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94089
Hypophosphatemic Rickets
Hypophosphatemia, Periapical tooth abscess, Hypercalcemia, Tooth abscess ORPHA:437
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Symptomatic Form Of Hemochromatosis Type 1
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... ORPHA:465508
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Hyperphosphatemia OMIM:239000
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Polyphagia, Hypocalcemic seizures, Hypocalcemia ORPHA:79444
X-Linked Hypophosphatemia
Hypophosphatemia, Tooth abscess ORPHA:89936
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Citrullinemia Type Ii
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hy... ORPHA:247585
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Anemia, Hyperkalemia, Agitation, Leukocytosis, Elevated circulating creatinine... ORPHA:340
Donohue Syndrome
Hyperglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperglycemia, Glucose int... OMIM:608612
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Polyphagia, Hypocalcemic seizures, Hypocalcemia ORPHA:79443
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... ORPHA:3008
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hypocalcemia, Diabetes mellitus, Hyperphosphatemia ORPHA:280651
Rabson-Mendenhall Syndrome
Increased C-peptide level, Impaired glucose tolerance, Diabetic ketoacidosis, Hypokalemia, Insuli... ORPHA:769
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Short Syndrome
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Hypercholesterolemia, H... OMIM:248370
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia OMIM:609069
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Anemia, Postprandial hyperglycemia ORPHA:440713
Scorpion Envenomation
Glycosuria, Hypokalemia, Increased circulating NT-proBNP concentration, Hyperglycemia, Increased ... ORPHA:466677
Leprechaunism
Hyperinsulinemia, Hypokalemia, Insulin resistance, Increased circulating renin level, Recurrent i... ORPHA:508
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperkalemia, Polyphagia, Hyperlipidemia, Hyponatremia, Hyperglycemia, Polydipsia ORPHA:293987
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hyperglycemia, Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia OMIM:124000
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Diabetes mellitus, Insulin-resistant dia... ORPHA:79474
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Hyperammonemia, Dysphagia 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 Insyn2b

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 Insyn2b.

No publications found that use IMPC mice or data for Insyn2b.

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MGI Allele Allele Type Produced
Insyn2bem1(IMPC)J Intra-exon deletion Mice
Insyn2bem1(IMPC)Wtsi Deletion Mice

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