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Gene: Hdac7 MGI:1891835

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Gene Summary

Name:
histone deacetylase 7
Synonyms:
5830434K02Rik,  Hdac7a

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 cholesterol homeostasis Hdac7tm1b(EUCOMM)Hmgu HET Early adult 8.83×10-07
abnormal coat/hair pigmentation Hdac7tm1b(EUCOMM)Hmgu HET Early adult 5.49×10-10
embryonic lethality prior to tooth bud stage Hdac7tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
increased circulating alkaline phosphatase level Hdac7tm1b(EUCOMM)Hmgu HET Early adult 9.04×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote Ambiguous
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Gut N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head mesenchyme N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Intestine N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Meckel's cartilage N/A heterozygote Ambiguous
Mesonephros of female N/A heterozygote Ambiguous
Mesonephros of male N/A heterozygote Ambiguous
Metanephros N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nasal septum N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Notochord N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Stomach N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote Ambiguous
Tongue N/A heterozygote Ambiguous
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote Ambiguous
Umbilical vein embryonic part N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Urinary system N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
meckel's cartilage Ambiguous
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
placenta Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

10 Images

View images

Human diseases caused by Hdac7 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 Hdac7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Ascites OMIM:256150
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Aortic aneurysm, Abnormal ST segment, Myocardial sarc... OMIM:612422
Hydrops Fetalis
Abnormality of the neck, Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, G... ORPHA:1041
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Synco... ORPHA:75249
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Cantu Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Lymphedema, Pericardial effusion, Congenital hyp... OMIM:239850
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Familial Idiopathic Dilatation Of The Right Atrium
Peripheral edema, Paroxysmal atrial fibrillation, Abnormal jugular vein morphology, Reduced left ... ORPHA:1677
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Peripheral edema, Elevated pulmonary artery pressure, P... ORPHA:57777
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas... OMIM:261740
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Stroke, Transie... ORPHA:99104
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Hemothorax, Pleural effusion, Abnormal pulmo... ORPHA:199241
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism ORPHA:79476
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Aortic aneurysm, Multiple muscular ventricular septal defects, Pericardial effusi... OMIM:620070
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Short neck, Encephalocele OMIM:613885
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Right atrial en... OMIM:619424
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... OMIM:618775
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Pericardial effusion, Short neck, Atrial septal defect OMIM:608776
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, ... ORPHA:36412
Kaposiform Lymphangiomatosis
Abnormality of the neck, Abnormal bleeding, Epidural hemorrhage, Pleural effusion, Abnormal lymph... ORPHA:464329
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Petechiae, Prolonged QTc interval ORPHA:231111
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion... ORPHA:292
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Pa... OMIM:618280
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Delayed eruption... OMIM:235510
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Pleural effusion, Ascites, Abnormal lymphatic vessel morphology, Gen... ORPHA:90362
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair OMIM:250900
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Alkuraya-Kucinskas Syndrome
Webbed neck, Pleural effusion, Pericardial effusion, Cystic hygroma, Edema OMIM:617822
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Hypertension, Pleural effusion ORPHA:79126
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Q Fever
Myocarditis, Abnormal vascular morphology, Purpura, Abnormal left ventricular function, Abnormal ... ORPHA:781
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... ORPHA:79477
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Aortic root aneurysm, Prominent veins on trunk, Pericardial effusion, Mitral valve p... ORPHA:536532
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hypertension, Ascites, Portal hypertension, Pericarditis, Pericardial e... OMIM:619487
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Obesity And Hypopigmentation
Red hair OMIM:620195
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Pericardial effusion, Hematochezia, Anasarca OMIM:618183
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... ORPHA:335
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Cardiomyopathy, Pericarditis, Pericardial effusion, Stroke-like episo... OMIM:212065
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph... ORPHA:79328
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Poems Syndrome
Pleural effusion, Ascites, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Ventricular hypertrophy, Hypertension, Ascites, Abnormal retinal arte... ORPHA:51608
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Syncope, Right bundle branch b... ORPHA:70591
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Hypertension, Sinus tachycardia, Right bundle branch block, Pulmonary ar... OMIM:614008
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pulmonary arterial ... ORPHA:77261
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Myhre Syndrome
Hypertension, Aortic valve stenosis, Pericardial effusion, Coarctation of aorta, Patent ductus ar... OMIM:139210
Hennekam Syndrome
Hydrops fetalis, Arteriovenous malformation, Delayed eruption of teeth, Chylothorax, Lymphedema, ... ORPHA:2136
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Pericardial effusion, Hematoc... OMIM:615846
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Patent ductus arteriosus ORPHA:1272
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden c... ORPHA:73224
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Red hair OMIM:609734
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elevated circulat... OMIM:618156
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Chédiak-Higashi Syndrome
Abnormal bleeding, Pleural effusion, Gingival bleeding, Pericardial effusion, Epistaxis, Edema, B... ORPHA:167
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Per... ORPHA:358
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylopericardium, Chylothorax, Lymphedema, Ascites, Pulmonary lympha... ORPHA:538
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pleural effusion, Pulmonary arterial hypertension, Tricuspid regurgitation, Right atrial enlargem... OMIM:620233
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock ORPHA:49566
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Pulmonary arterial hypertension OMIM:181000
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Vasculitis, Gingival bleeding, Internal h... ORPHA:906
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Pulmonary edema, Melena, Petechiae, Capillary leak, Hypertension, Pleural effusion, ... ORPHA:340
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Pleural effusion, Hypotension, Internal hemorrhage, ... ORPHA:244242
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... ORPHA:84064
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Dehydratio... ORPHA:99826
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hem... ORPHA:247245
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... OMIM:242840
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Vascular Ehlers-Danlos Syndrome
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous... ORPHA:286
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Pmm2-Cdg
Angina pectoris, Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Int... ORPHA:79318
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Internal hemorrhage, Pulmonary lymphangiomyom... ORPHA:805
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec... OMIM:219800
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Hyperbilirubinemia, Abnormal eyelash morphol... OMIM:619488
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Reduced left ventricular ejection fra... ORPHA:99829
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Abnormal eyelash morphology, Hypopigment... ORPHA:818

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 Hdac7

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 Hdac7.

No publications found that use IMPC mice or data for Hdac7.

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
Hdac7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hdac7tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Hdac7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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