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Gene: Abhd6 MGI:1913332

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Gene Summary

Name:
abhydrolase domain containing 6
Synonyms:
0610041D24Rik

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
abnormal vitreous body morphology Abhd6em1(IMPC)Mbp HOM   Early adult 4.27×10-05

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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
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71526
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Agitation,... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Agitation, Episodic hyperhidr... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Gait disturbance, Insulin resistance, Multiple ... ORPHA:2398
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Hepatomegaly, Hyper... ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou... OMIM:604367
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Agitation, Episodic hyperhidrosis, Diffuse panc... ORPHA:276556
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous... OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hepatomegaly, Hypo... ORPHA:263455
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonad... ORPHA:79237
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre... ORPHA:552
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:608594
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Panniculitis, Hepat... ORPHA:79086
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Fever, Failure to thrive, Recurrent fever, Hepatospl... OMIM:619858
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:613327
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Po... ORPHA:79319
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:269700
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hypercholesterolemia, Reduced subc... OMIM:612526
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Fever, Splenomegaly, Failure to thrive in infancy OMIM:619175
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Loss of subcutaneous adipose tissue in limb... OMIM:248370
Wolman Disease
Hepatomegaly, Reduced lysosomal acid lipase activity, Fever, Failure to thrive, Acute hepatic fai... OMIM:620151
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f... OMIM:602579
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Fever, Weight loss, Recurrent hypoglycemia, Hypo... ORPHA:2126
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Ataxia, Abnormality of the parat... ORPHA:1227
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia, Weight loss, Abnormal peritoneum morphology ORPHA:2023
Cholangiocarcinoma
Anorexia, Jaundice, Fever, Biliary tract neoplasm, Acholic stools ORPHA:70567
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... ORPHA:71212
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Hepatomegaly, Fever, Hyperhidrosis, Splenomegaly, Weight loss ORPHA:86893
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Hepatitis Delta
Anorexia, Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulatin... ORPHA:402823
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Elevated alkaline pho... OMIM:615363
Prader-Willi Syndrome
Self-injurious behavior, Delayed puberty, Decreased response to growth hormone stimulation test, ... OMIM:176270
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ... OMIM:615238
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, He... OMIM:203800
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Elevated tissue non-specific alkaline phosphatase, Hype... ORPHA:785
Rabson-Mendenhall Syndrome
Polydipsia, Increased circulating androgen concentration, Increased serum testosterone level, Fas... ORPHA:769
Neonatal Alloimmune Neutropenia
Fever, Jaundice, Maternal diabetes, Temperature instability ORPHA:464370
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Increased circulatin... ORPHA:508
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pan... ORPHA:93111
Wolman Disease
Steatorrhea, Hepatomegaly, Cachexia, Hepatic failure, Fever, Splenomegaly, Adrenal calcification,... ORPHA:75233
Cystinosis
Polydipsia, Delayed puberty, Portal hypertension, Nephrogenic diabetes insipidus, Fever, Failure ... ORPHA:213
Pfapa Syndrome
Abnormality of temperature regulation, Hepatomegaly, Splenomegaly, Weight loss ORPHA:42642
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Glycosuria, Failure to thrive, Reduced pancr... ORPHA:99885
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty walki... ORPHA:1667
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Atypical Werner Syndrome
Lipoatrophy, Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Caroli Disease
Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal... ORPHA:53035
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:276700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Adrenal hyperplasia, Recurrent fever, Adrenogenital syndrome, Hypoglycemia, Elevated circu... OMIM:201910
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Hypothermia ORPHA:230
Steinert Myotonic Dystrophy
Obsessive-compulsive trait, Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, H... ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Fever, Splenomegaly, Weight loss ORPHA:33577
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Cockayne Syndrome Type 1
Scarring, Abnormality of temperature regulation, Hepatomegaly, Elevated circulating hepatic trans... ORPHA:90321
Digital Extensor Muscle Aplasia-Polyneuropathy
Hypohidrosis, Camptodactyly of finger, Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Seckel Syndrome 10
Hypertriglyceridemia, Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Elevat... OMIM:617253
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Fever, Hyperglycemia, Ataxia, Weight loss, Hypoglycemia, Oral ... ORPHA:134
Beta-Thalassemia
Abnormality of temperature regulation, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis, Hyp... ORPHA:848
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Dysmetria, Elevated circulating thyro... OMIM:620185
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Reduced pancreatic beta cells, Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes... OMIM:226980
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Fever, Failure to thr... ORPHA:556037
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... ORPHA:131
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Hepatosplenomegaly, Panniculitis, Weight loss ORPHA:86884
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Hypothermia, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:20
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Fever, Acute hepatic failur... ORPHA:171
Pancreatitis, Hereditary
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Fever, Exocrine pancreatic insufficiency, Pancr... OMIM:167800
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Splenomegaly, Umbil... OMIM:619991
Deeah Syndrome
Neonatal hypoglycemia, Abnormality of temperature regulation, Decreased response to growth hormon... OMIM:619004
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperlipide... ORPHA:293987
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inability to walk, Microve... ORPHA:404454
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Fever, Failure to thrive, Adrenal hyperplasia, De... ORPHA:90790
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell h... OMIM:267000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Hepatomegaly, Panniculitis, Elevated circulating hepatic transaminase concentration, P... OMIM:615688
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Fever, Hypertriglyceridemia, Panniculitis, Splenomegaly OMIM:618398
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Microphthalmia/Coloboma 12
Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:120200
Mirizzi Syndrome
Anorexia, Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholel... ORPHA:521219
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Inability to walk, Elbow flexion contracture,... OMIM:618493
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Elevated cir... ORPHA:79318
Klatskin Tumor
Jaundice, Hepatomegaly, Fever, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs... ORPHA:480520
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Progressive cerebellar ataxia ORPHA:98757
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Hepatomegaly, Inguinal hernia, Omphalocele, Camptodactyly of fin... ORPHA:373
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Abnormality of temperature regulation, Hepatitis ORPHA:1334
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Stuve-Wiedemann Syndrome 1
Abnormality of temperature regulation, Flexion contracture of toe, Elbow flexion contracture, Cam... OMIM:601559
Machado-Joseph Disease Type 1
Abnormality of temperature regulation, Progressive cerebellar ataxia, Dysphagia, Progressive gait... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation, Progressive cerebellar ataxia, Dysphagia, Progressive gait... ORPHA:276241
Ulnar-Mammary Syndrome
Delayed puberty, Abnormality of temperature regulation, Camptodactyly of finger, Hernia of the ab... ORPHA:3138
Greenberg Dysplasia
Pancreatic islet-cell hyperplasia, Hepatosplenomegaly, Hepatic calcification, Hepatomegaly OMIM:215140
Machado-Joseph Disease Type 3
Abnormality of temperature regulation, Progressive cerebellar ataxia, Dysphagia, Progressive gait... ORPHA:276244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation, Hyperhidrosis OMIM:619173
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia, Hyperhidrosis, Abnormality of temperature regulation OMIM:209880
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Hepatomegaly, Inguinal hernia, Splenomegaly, Umbilical hernia, H... OMIM:312870
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Inguinal hernia, Abnormal dental enamel morphology, Omphal... ORPHA:2273
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage OMIM:609049
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation, Hepatomegaly, Splenomegaly ORPHA:667
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation, Gait disturbance ORPHA:139417
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539
Norrie Disease
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170

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 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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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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