Gene: Zbed6 MGI:3828086

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Gene Summary

zinc finger, BED type containing 6
similar to Zinc finger BED domain containing protein 4,  Gm8466,  MGR

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

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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 Zbed6 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 Zbed6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Bardet-Biedl Syndrome 6
Hypospadias, Diabetes mellitus, Renal cyst, Obesity OMIM:605231
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Obesity OMIM:615988
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Obesity OMIM:615987
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Diabetes mellitus, Hepatic steatosis OMIM:613877
Increased waist to hip ratio, Obesity OMIM:601665
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly, Increase... OMIM:232700
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 12
Abnormality of the kidney, Obesity OMIM:615989
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Knee flexion ... OMIM:602484
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased body weight, Renal insu... ORPHA:890
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Portal hyperten... OMIM:263200
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Bardet-Biedl Syndrome 18
Renal insufficiency, Obesity OMIM:615995
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney, Obesity OMIM:615993
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resist... ORPHA:90301
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Hyperlipoproteinemia, Type Id
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:615947
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Larg... OMIM:616026
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Glomerular s... OMIM:276700
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology OMIM:606072
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Enlarged kidney, Cholestasis, Hepatomegaly, Hepatic fibrosis, Asplenia OMIM:615415
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Abnormality of the tongue m... ORPHA:370968
Syndromic X-Linked Intellectual Disability 7
Obesity, Micropenis, Hypoplasia of penis ORPHA:85274
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:71529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Marked muscular hypertrophy, Insulin resistance, Skeletal muscle hy... ORPHA:79083
Congenital Generalized Lipodystrophy
Macroglossia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Skeletal muscle hypertrophy, Hepat... ORPHA:528
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, Hepatic failure OMIM:617872
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Increased muscle lipid content, Enlarged kidney, Nonketotic hypogl... OMIM:608836
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Bardet-Biedl Syndrome 5
Micropenis, Obesity OMIM:615983
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity OMIM:615418
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia, Jaundice ORPHA:2349
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Hyperostosis Frontalis Interna
Diabetes mellitus, Obesity OMIM:144800
Glycogen Storage Disease Ia
Decreased muscle mass, Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarge... OMIM:232200
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Nephroblastoma OMIM:235000
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Reduced muscle carnitine level, Hepatic steatosis, Recurrent hypog... OMIM:212140
Nephronophthisis 15
Nephronophthisis, Hepatic failure, Obesity OMIM:614845
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polycys... ORPHA:730
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Failure to thrive, Childhood-onset truncal ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Failure to thrive, Childhood-onset truncal ... ORPHA:71526
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Glomerulopathy, Hepatomegaly,... ORPHA:2348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Skeletal mu... OMIM:613156
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Neonatal hypoglycemia, Renal cortical cysts, Enlarged kidney, Hepa... OMIM:130650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture OMIM:611588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613157
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity OMIM:615996
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Cidec-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly... ORPHA:435651
Summitt Syndrome
Obesity OMIM:272350
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatomegaly, Hep... OMIM:615630
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency,... ORPHA:2377
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellula... OMIM:232220
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Enlarged kidney, Focal segmental glomerulosclerosis, Flexion contracture, Macrovesi... OMIM:617303
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Nephrocalcinosis, Hyperphosphaturia, Generalized aminoaciduria, Postprandia... ORPHA:2088
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage 5 chronic ki... OMIM:616629
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Marked muscular hypertrophy, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:435660
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Renal steatosis, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia,... OMIM:261680
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Obesity OMIM:615982
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatomegaly, Hepatic fibrosis, Stage 5 chronic kidney disease, Sp... OMIM:616217
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Type II diabetes m... ORPHA:90970
Mehmo Syndrome
Obesity, Diabetes mellitus, Micropenis, Hypoplasia of penis ORPHA:85282
Trisomy 5P
Obesity, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1742
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy ORPHA:101082
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Visceromegaly, Pancreatic islet-cell hyperplasia OMIM:601165
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy, Obesity ORPHA:459033
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Ob... ORPHA:251004
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Skeletal muscle hypertrophy,... OMIM:613327
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Recurrent infantile hypoglycemia, Insulin res... ORPHA:508
Beckwith-Wiedemann Syndrome
Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Congenital diaphragmatic hernia, Ureteral du... ORPHA:116
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity, Cholestasis OMIM:609734
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Increased body weight OMIM:614450
Bardet-Biedl Syndrome 21
Overweight, Horseshoe kidney, Elevated hepatic transaminase, Obesity OMIM:617406
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Bardet-Biedl Syndrome 8
Obesity, Renal dysplasia, Hypospadias OMIM:615985
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Micropenis, Obesity OMIM:610628
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Thenar muscle atrophy, Urinary... OMIM:604360
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Failure to th... OMIM:211600
Macrocephaly/Autism Syndrome
Hepatomegaly, Obesity, Splenomegaly OMIM:605309
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Hepatic ... OMIM:200995
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Abnormal liver lo... OMIM:608022
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities OMIM:255700
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis ORPHA:791
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Urinary bladder inflammation... ORPHA:449395
Biemond Syndrome Type 2
Hypospadias, Obesity ORPHA:141333
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Nonketotic hypoglycemi... ORPHA:97279
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Enlarged ... ORPHA:79259
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity OMIM:615981
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hyperglycemia, Increased body weight, Abdominal obesity OMIM:615954
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, Multiple jo... ORPHA:486815
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy ORPHA:99014
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Biliary cirrhosis, Sclerosing cholangitis, Cholestasis,... OMIM:617394
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypoplasia of penis ORPHA:2234
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Obesity OMIM:615994
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Skeletal muscle hypertrophy, Hepatic steatosis, Muscle hypertrophy of the low... ORPHA:280365
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Renal malrotation, Bifid ureter, Enlarged kidney, Camptodactyly, Multicystic kidney... ORPHA:500095
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Richieri Costa-Da Silva Syndrome
Skeletal muscle hypertrophy, Distal lower limb muscle weakness, Decreased muscle mass, Asymmetric... ORPHA:3101
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Paramyotonia Congenita Of Von Eulenburg
Skeletal muscle hypertrophy OMIM:168300
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
H Syndrome
Enlarged kidney, Camptodactyly, Diabetes mellitus, Micropenis, Abnormality of the kidney, Hepatos... ORPHA:168569
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber pre... ORPHA:169189
Leptin Deficiency Or Dysfunction
Micropenis, Obesity OMIM:614962
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hepatic fibrosis, Nephrotic syndrome, Skeletal muscle atrophy, Hypo... ORPHA:110
Myotonia Permanens
Skeletal muscle hypertrophy, Generalized muscle hypertrophy ORPHA:99735
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Skeletal muscle hypertrophy, Hepatic steatosis, Insulin-resistant diabetes mell... OMIM:151660
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Abcd Syndrome
Large for gestational age OMIM:600501
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Hepatomegaly, Jaundice, Cholangiocarcinoma ORPHA:99978
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Enlarged kidney, Flexion contracture, Heparan sulfate excretion in urine, Nephrotic... ORPHA:505248
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity OMIM:615633
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:160800
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Abnormal spleen morphology, Splenomegaly... ORPHA:464329
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Dystonia 7, Torsion
Skeletal muscle hypertrophy, Torticollis OMIM:602124
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Renal insufficiency, Nephropathy, Nephroblastoma, Hypospadias, Obesity OMIM:194072
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy ORPHA:99736
Distal 16P11.2 Microdeletion Syndrome
Obesity, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney... ORPHA:261222
Renal steatosis, Hepatic steatosis, Tendon xanthomatosis, Acute pancreatitis, Hepatomegaly, Diabe... ORPHA:412
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy OMIM:608390
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Congenital muscular dystrophy, Skeletal muscle hypertrophy, Hypoglycosylation of al... ORPHA:370959
Hemihyperplasia-Multiple Lipomatosis Syndrome
Overgrowth, Nephroblastoma, Enlarged kidney ORPHA:276280
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight OMIM:300860
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Leptin Receptor Deficiency
Diabetes mellitus, Obesity OMIM:614963
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
EMG: myopathic abnormalities, Obesity OMIM:618822
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Skeletal muscle atrophy, Abdominal obesity, Neph... OMIM:219090
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Perlman Syndrome
Nephroblastomatosis, Nephrogenic rest, Hypoplasia of the abdominal wall musculature, Visceromegal... OMIM:267000
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Camptodactyly of toe, Marked muscular hypertrophy OMIM:300280
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity OMIM:600955
Schwartz-Jampel Syndrome, Type 1
Shoulder flexion contracture, Skeletal muscle hypertrophy, Flexion contracture of toe, Wrist flex... OMIM:255800
Stiff Person Spectrum Disorder
Paraspinal muscle hypertrophy, Diabetes mellitus ORPHA:3198
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice, Obesity OMIM:612291
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:682
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Diastasis recti, Enlarged kidney, Polysplenia, Tall stature, Birth length greater t... OMIM:312870
Smith-Magenis Syndrome
Abnormal renal morphology, Abnormality of the urinary system, Increased body weight OMIM:182290
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Diastasis recti, Large for gestational age, Small for gestational age ORPHA:254534
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Exercise-induced rhabdomyoly... ORPHA:26793
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Renal malrotation, Bifid ureter, Tall stature, Renal dysplasia, Overgrowth, Nephrob... OMIM:617107
Satoyoshi Syndrome
Skeletal muscle hypertrophy OMIM:600705
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Overweight, Type II diabetes mellitus ORPHA:401923
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Micropenis, Hyperinsulinemia, Type II diabetes mellitus, Obesity OMIM:619326
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Increased body weight OMIM:615830
Distal Tetrasomy 15Q
Horseshoe kidney, Camptodactyly, Flexion contracture, Birth length greater than 97th percentile, ... ORPHA:314588
Aromatase Deficiency
Insulin resistance, Hepatic steatosis, Tall stature, Type II diabetes mellitus, Eunuchoid habitus... ORPHA:91
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Skeletal muscle hypertrophy, Flexion contracture of toe, Abno... ORPHA:800
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy OMIM:127300
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Weight loss, Increased body w... ORPHA:1501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contracture, Increased ... OMIM:613150
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria, Obesity ORPHA:34527
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Flexion contracture, Increased body weight, Failure to thrive, Type II diabete... ORPHA:398069
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Postprandial hypergl... ORPHA:79102
Myhre Syndrome
Skeletal muscle hypertrophy, Camptodactyly, Small for gestational age, Generalized muscle hypertr... OMIM:139210
Myhre Syndrome
Abnormal penis morphology, Skeletal muscle hypertrophy, Epispadias, Hypospadias ORPHA:2588
Hellp Syndrome
Acute kidney injury, Elevated hepatic transaminase, Hemoglobinuria, Increased body weight, Protei... ORPHA:244242
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis OMIM:619269
Wiedemann-Rautenstrauch Syndrome
Slender build, Camptodactyly of finger, Dilatation of renal calices, Skeletal muscle hypertrophy,... ORPHA:3455
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Generalized muscle hypertrophy OMIM:235730


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 Zbed6

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 Zbed6.

No publications found that use IMPC mice or data for Zbed6.

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MGI Allele Allele Type Produced
Zbed6em1(IMPC)J Intra-exon deletion Mice

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