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Gene: Hdac1 MGI:108086

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Gene Summary

Name:
histone deacetylase 1
Synonyms:
HD1,  RPD3,  MommeD5

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 circulating cholesterol level Hdac1tm1a(EUCOMM)Wtsi HET Early adult 6.52×10-09
decreased mean corpuscular hemoglobin Hdac1tm1b(EUCOMM)Wtsi HET Early adult 2.63×10-05
preweaning lethality, complete penetrance Hdac1tm1b(EUCOMM)Wtsi HOM   Early adult 1.79×10-08
increased circulating HDL cholesterol level Hdac1tm1a(EUCOMM)Wtsi HET Early adult 8.74×10-05
decreased exploration in new environment Hdac1tm1b(EUCOMM)Wtsi HET Early adult 7.73×10-07
cardiovascular system phenotype Hdac1tm1b(EUCOMM)Wtsi HET   Early adult 7.03×10-05
decreased heart rate variability Hdac1tm1b(EUCOMM)Wtsi HET   Early adult 2.86×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

34 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Legacy Phenotype Associated Images
Hdac1tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Hdac1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Hdac1tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Hdac1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Hdac1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 196 images

Hdac1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Hdac1tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Hdac1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Hdac1tm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI

Human diseases caused by Hdac1 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 Hdac1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Alpha-Thalassemia
Anemia, Cognitive impairment, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly,... ORPHA:846
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Beta-Thalassemia
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Irritability, Abnormal hemoglobin, Splenom... ORPHA:848
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Acquired Methemoglobinemia
Anxiety, Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Laron Syndrome
Hypercholesterolemia ORPHA:633
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Polycythemia ORPHA:90042
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Dilated... ORPHA:231226
Beta-Thalassemia Major
Anemia of inadequate production, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpus... ORPHA:231214
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenome... ORPHA:231222
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... ORPHA:470
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Persistence of hemoglobin F OMIM:617101
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Lead Poisoning
Abnormal T cell morphology, Anemia, Cognitive impairment, Hypertension, Imbalanced hemoglobin syn... ORPHA:330015
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin, Self-injurious behavior ORPHA:847
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... OMIM:309000
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534

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 Hdac1

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 Hdac1.

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

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Hdac1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Hdac1tm1a(EUCOMM)Wtsi PMC6459510
Hdac3 regulates lymphovenous and lymphatic valve formation. The Journal of clinical investigation (October 2017) Hdac1tm1c(EUCOMM)Wtsi PMC5663362
Histone deacetylase 1 and 2 are essential for murine neural crest proliferation, pharyngeal arch development, and craniofacial morphogenesis. Developmental dynamics : an official publication of the American Association of Anatomists (September 2017) Hdac1tm1c(EUCOMM)Wtsi Hdac1tm1a(EUCOMM)Wtsi 28791750
HDAC1 and HDAC2 integrate the expression of p53 mutants in pancreatic cancer. Oncogene (October 2016) Hdac1tm1a(EUCOMM)Wtsi 27721407
Distinct Roles of HDAC3 in the Core Circadian Negative Feedback Loop Are Critical for Clock Function. Cell reports (January 2016) Hdac1tm1a(EUCOMM)Wtsi 26776516

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MGI Allele Allele Type Produced
Hdac1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hdac1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Hdac1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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