Gene Summary

Name:
histone deacetylase 7
Synonyms:
5830434K02Rik,  Hdac7a

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 coat/hair pigmentation Hdac7tm1b(EUCOMM)Hmgu HET Early adult 4.17×10-09
increased circulating alkaline phosphatase level Hdac7tm1b(EUCOMM)Hmgu HET Early adult 1.93×10-06
abnormal cholesterol homeostasis Hdac7tm1b(EUCOMM)Hmgu HET Early adult 2.79×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Pericardial Effusion, Chronic
Pericardial effusion, Retinal arteriolar tortuosity, Constrictive pericarditis OMIM:260900
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Hydrops fetalis, Gastrointestinal hemorrhage, Inte... ORPHA:90308
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Cantu Syndrome
Lymphedema, Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertro... OMIM:239850
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Pulmonic stenosis, Congestive heart f... ORPHA:2414
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology, Short neck OMIM:608776
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Pleural effusion, Abnormal pulmona... ORPHA:199241
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Peripheral edema, Abnormal left ventricular function, Atrial fibrill... ORPHA:75249
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Partial albinism, Hyperlipidemia ORPHA:79476
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Drug-Induced Lupus Erythematosus
Petechiae, Pericarditis, Prolonged QTc interval, Pericardial effusion ORPHA:231111
Congenital Enterovirus Infection
Polyhydramnios, Abnormal bleeding, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial ef... ORPHA:292
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Endocardial fibroelastosis, Right atrial enlarg... OMIM:619313
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Abnorma... ORPHA:464329
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Persistent left superior vena cava, Bradycardia,... OMIM:618775
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion,... ORPHA:36412
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Patent ductus arteriosus, Peripheral arterial stenosis, S... OMIM:126320
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Atrial septal defect, Pericardial lymphangiectasia, Ventricular septal... OMIM:235510
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion, Hypertension, Vascular ... OMIM:108050
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Ascites, Pulmonary arterial hypertension, Abnormal myocardium ... ORPHA:77259
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Webbed neck, Pericardial effusion, Umbilical hernia, Carotid artery ste... ORPHA:536532
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Alkuraya-Kucinskas Syndrome
Cystic hygroma, Webbed neck, Pericardial effusion, Edema OMIM:617822
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Q Fever
Endocarditis, Pericarditis, Purpura, Abnormal heart valve morphology, Pleural effusion, Pericardi... ORPHA:781
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Peripheral edema, Hypertension ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Pericardial effusion, Edema, Ascites, Raynaud phenomenon ORPHA:93552
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Partial albinism, Hyp... ORPHA:79477
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Adams-Oliver Syndrome 5
Patent foramen ovale, Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, Right ventri... OMIM:616028
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Hematochezia, Pleural effusion, Pericardial effusion, Ascites OMIM:618183
Poems Syndrome
Pleural effusion, Pericardial effusion, Edema, Ascites, Pulmonary arterial hypertension ORPHA:2905
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Tachycardia, Gingival bleeding, Right ventricular hypertr... ORPHA:335
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Pericardial effusion, Cardiomegaly, Pul... ORPHA:51608
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... ORPHA:185
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Nonimmune hydrops fetalis, Prolonged prothrombin time, Cardiomyopathy OMIM:212065
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, ... OMIM:139210
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Hypocho... OMIM:618156
Aymé-Gripp Syndrome
Pericardial effusion, Patent ductus arteriosus, Pericarditis ORPHA:1272
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Tubular Renal Disease-Cardiomyopathy Syndrome
Pericardial effusion, Sudden cardiac death, Congestive heart failure, Pulmonary edema, Dilated ca... ORPHA:73224
Hennekam Syndrome
Delayed eruption of teeth, Hydrops fetalis, Lymphedema, Pericardial effusion, Chylothorax, Pulmon... ORPHA:2136
Chédiak-Higashi Syndrome
Abnormal bleeding, Pleural effusion, Pericardial effusion, Epistaxis, Edema, Bruising susceptibil... ORPHA:167
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Pericardial ... ORPHA:358
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
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, Lymphedema, Ascites, Chylothorax, Pulmonary lymphangiomyomatosis, Ch... ORPHA:538
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Pericardial effus... ORPHA:91347
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Classic Phenylketonuria
Hyperphenylalaninemia, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Blue irides, Fair hair OMIM:614613
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Abnormality of the nail, Abnor... ORPHA:238468
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Sparse scalp hair, Generalized h... ORPHA:3322
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Hellp Syndrome
Internal hemorrhage, Hypotension, Pleural effusion, Cerebral hemorrhage, Pulmonary edema, General... ORPHA:244242
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver-gray ha... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Syndromic Diarrhea
Hypopigmentation of hair, Abnormality of iron homeostasis, Uncombable hair, Brittle hair, Cafe-au... ORPHA:84064
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Long eyelash... ORPHA:79430
Superficial Siderosis
Persistent bleeding after trauma, Abnormal vertebral artery morphology, Abnormal bleeding, Intern... ORPHA:247245
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Hypopigmentation of the skin OMIM:242840
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac and mes... ORPHA:286
Hepatocellular Carcinoma
Anasarca, Internal hemorrhage, Hypotension, Budd-Chiari syndrome, Pedal edema, Ascites, Portal hy... ORPHA:88673
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Frontal upsweep of... OMIM:176270
Pmm2-Cdg
Anasarca, Pericarditis, Angina pectoris, Intracranial hemorrhage, Pericardial effusion, Lymphedem... ORPHA:79318
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Internal hemorrhage, Hypertension, Pulmonary lymphangiomyomatosis, Aortic an... ORPHA:805
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Coarse hair, Hypopigmentation of hair, Dry hair ORPHA:1974
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Red hair, Fair hair, Hyperphosphatemia, Blue irides ORPHA:280651
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Hyperpigmentation of the skin, Hypopigmentation ... ORPHA:177907
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Carney Complex
Increased circulating cortisol level, Red hair, Hirsutism, Cafe-au-lait spot, Profuse pigmented s... ORPHA:1359
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypopigmentation of hair, Pigmentary retinopathy, Hypophosphatemic ri... OMIM:219800
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Elevated 7-dehydrocholesterol, Abnormal eyelash morphology 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.

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MGI Allele Allele Type Produced
Hdac7tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
Hdac7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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