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Gene: Abhd6 MGI:1913332

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Gene Summary

Name:
abhydrolase domain containing 6
Synonyms:
0610041D24Rik

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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.

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Abhd6 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 Abhd6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Polyphagia, Obes... ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist... ORPHA:2398
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Agitation, Pancrea... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit... ORPHA:528
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... ORPHA:171706
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H... ORPHA:79237
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia OMIM:240800
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancrea... OMIM:246200
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of end... ORPHA:79230
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:608594
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Autoinflammatory-Pancytopenia Syndrome
Fever, Lipodystrophy, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis, Type I dia... OMIM:619858
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I... OMIM:613327
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... ORPHA:79319
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Fever, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurren... ORPHA:2126
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypog... OMIM:602579
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-s... OMIM:617872
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Fever, Anorexia, Weight loss ORPHA:2023
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypoglycemia, Decreased cir... ORPHA:453533
Cholangiocarcinoma
Fever, Anorexia, Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypertriglyceridemia, Decr... OMIM:203800
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... ORPHA:71212
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Weight loss ORPHA:86893
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas... OMIM:615363
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Inflammatory Pseudotumor Of The Liver
Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal... ORPHA:90003
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level, Abse... ORPHA:785
Neonatal Alloimmune Neutropenia
Fever, Jaundice, Maternal diabetes, Temperature instability ORPHA:464370
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Prader-Willi Syndrome
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone... OMIM:176270
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... ORPHA:508
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Wolman Disease
Fever, Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Adrenal insufficiency, Steato... ORPHA:75233
Cystinosis
Fever, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Gait disturbance, Del... ORPHA:213
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss ORPHA:42642
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Fever, Neonatal insulin-depen... ORPHA:1667
Tenorio Syndrome
Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Atypical Werner Syndrome
Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Abnormal circulating leptin concentration, ... ORPHA:79474
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb ... ORPHA:99885
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem... OMIM:276700
Caroli Disease
Fever, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexi... ORPHA:53035
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Hypothermia ORPHA:230
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
Nodular Non-Suppurative Panniculitis
Fever, Hepatomegaly, Splenomegaly, Weight loss, Panniculitis ORPHA:33577
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino... OMIM:617253
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormality of temperature regulation, Camptodactyly of finger, Hypohidrosis ORPHA:2926
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Abnormality of temperature regulation, Foot joint co... ORPHA:90321
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Elevated circulating thyroid-stimulating hormone concen... OMIM:620185
Late-Onset Familial Hypoaldosteronism
Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circ... ORPHA:556037
Beta-Thalassemia
Hepatomegaly, Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Splenomegaly,... ORPHA:848
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Beta-Ketothiolase Deficiency
Fever, Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyper... ORPHA:134
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Fever, Panniculitis, Hepatosplenomegaly ORPHA:86884
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Fever, Portal hypertension, S... ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 9
Fever, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic ... OMIM:619849
Pancreatitis, Hereditary
Fever, Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreati... OMIM:167800
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,... ORPHA:20
Liver Disease, Severe Congenital
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... OMIM:619991
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increas... ORPHA:90790
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D... ORPHA:404454
Deeah Syndrome
Hepatomegaly, Abnormality of temperature regulation, Decreased response to growth hormone stimula... OMIM:619004
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Fever, Splenomegaly, Panniculitis, Hypertriglyceridemia OMIM:618398
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline phosphata... ORPHA:171
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gesta... OMIM:267000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Fever, Ataxia, Portal hypertension, Splenomegaly, He... OMIM:615688
Mirizzi Syndrome
Elevated hepatic transaminase, Fever, Anorexia, Pancreatitis, Jaundice, Elevated circulating alka... ORPHA:521219
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... OMIM:618493
Pmm2-Cdg
Elevated hepatic transaminase, Fever, Multiple joint contractures, Lipodystrophy, Ataxia, Hypogon... ORPHA:79318
Klatskin Tumor
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Fever, Cholangiti... ORPHA:480520
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of temperature regulation ORPHA:98757
Simpson-Golabi-Behmel Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia... ORPHA:373
Chronic Mucocutaneous Candidiasis
Hepatitis, Abnormality of temperature regulation, Abnormal dental enamel morphology ORPHA:1334
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Elbow flexion contracture, Dysphagia, Knee flexion ... OMIM:601559
Machado-Joseph Disease Type 1
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276238
Machado-Joseph Disease Type 2
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276241
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Camptodactyly of finger, Obesity, Delayed puberty, Hernia ... ORPHA:3138
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276244
Greenberg Dysplasia
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly OMIM:215140
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation, Hyperhidrosis OMIM:619173
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Abnormality of temperature regulation, Hypercapnia, Hyperhidrosis OMIM:209880
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Splenomegaly, Pancreatic islet-ce... OMIM:312870
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormality of temperature regulation, Camptodactyly of finger, Abn... ORPHA:2273
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation ORPHA:667
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation, Gait disturbance ORPHA:139417

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 Abhd6

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 Abhd6.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ABHD6 suppression promotes anti-inflammatory polarization of adipose tissue macrophages via 2-monoacylglycerol/PPAR signaling in obese mice. Molecular metabolism (October 2023) Abhd6tm1a(EUCOMM)Hmgu PMC10622714
Adipose ABHD6 regulates tolerance to cold and thermogenic programs. JCI insight (December 2020) Abhd6tm1c(EUCOMM)Hmgu PMC7819748
Metabolic disease and ABHD6 alter the circulating bis(monoacylglycerol)phosphate profile in mice and humans. Journal of lipid research (March 2019) Abhd6tm1a(EUCOMM)Hmgu PMC6495172
α/β-Hydrolase Domain 6 in the Ventromedial Hypothalamus Controls Energy Metabolism Flexibility. Cell reports (October 2016) Abhd6tm1c(EUCOMM)Hmgu 27783937
α/β-Hydrolase Domain 6 Deletion Induces Adipose Browning and Prevents Obesity and Type 2 Diabetes. Cell reports (March 2016) Abhd6tm1a(EUCOMM)Hmgu 26997277
α/β-Hydrolase domain-6 and saturated long chain monoacylglycerol regulate insulin secretion promoted by both fuel and non-fuel stimuli. Molecular metabolism (October 2015) Abhd6tm1c(EUCOMM)Hmgu PMC4731734

Order Mouse and ES Cells

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
Abhd6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Abhd6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abhd6em1(IMPC)Mbp Exon Deletion Mice, Tissue

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