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Gene: Parp6 MGI:1914537

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
poly (ADP-ribose) polymerase family, member 6
Synonyms:
2310028P13Rik,  1700119G14Rik,  3110038K10Rik,  C030013N01Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Parp6 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 Parp6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Spermatogenic Failure 17
Male infertility OMIM:617214
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... OMIM:263000
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Failure to thrive, Nonspecific interstitial pneumonia, Crazy paving pattern, Cy... OMIM:610921
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc... OMIM:265120
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Ciliary Dyskinesia, Primary, 50
Male infertility, Coiled sperm flagella, Reduced sperm motility, Chronic bronchitis, Short sperm ... OMIM:620356
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis ORPHA:91130
Neuralgic Amyotrophy
Acrocyanosis, Paresthesia ORPHA:2901
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Chorea, Cyanosis, Ataxia ORPHA:71277
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Perching Syndrome
Cyanosis OMIM:617055
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Surfactant Metabolism Dysfunction, Pulmonary, 2
Failure to thrive, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intral... OMIM:610913
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Encephalopathy, Ethylmalonic
Death in infancy, Ataxia, Acrocyanosis, Failure to thrive, Petechiae OMIM:602473
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Small for gestational age ORPHA:621
Breath-Holding Spells
Cyanosis OMIM:607578
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Buerger Disease
Acrocyanosis, Paresthesia ORPHA:36258
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Asbestos Intoxication
Cyanosis, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Hypoxemia,... ORPHA:2302
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... ORPHA:79126
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy ORPHA:276183
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Ataxia, Petechiae ORPHA:51188
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Pneumothorax, Hypoxemia, Abnormal pulmonary artery mo... ORPHA:2257
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis, Weight loss ORPHA:1302
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Eosinophilic Fasciitis
Acrocyanosis, Paresthesia, Weight loss ORPHA:3165
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:330012
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectas... ORPHA:60025
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia ORPHA:747
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cyanosis ORPHA:2414
Chronic Pneumonitis Of Infancy
Hypoxemia, Failure to thrive, Cyanosis ORPHA:91359
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... ORPHA:199241
Ciliary Dyskinesia, Primary, 34
Male infertility, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Recurrent bronchitis OMIM:617091
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis, Truncal ataxia OMIM:614407
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Bronchiectasis, Coiled sperm flagella, Recurr... OMIM:620197
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Failure to thrive in infancy ORPHA:284417
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Anomalous pulmonary venous return, Hypoxemia, Failure to thrive ORPHA:860
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Immotile... OMIM:613807
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cryptorchidism, Cyanosis ORPHA:3304
Congenital Fibrinogen Deficiency
Decreased testicular size, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Hsd10 Disease, Infantile Type
Choreoathetosis, Cyanosis ORPHA:391428
Chiari Malformation Type Ii
Cyanosis, Ataxia OMIM:207950
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Cyanosis ORPHA:444013
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Ataxia, Death in childhood, Recurrent lower respiratory tract infecti... OMIM:618426
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Acrocyanosis, Pneumonia ORPHA:1867
Ciliary Dyskinesia, Primary, 9
Male infertility, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Ataxia, Decreased fertility in females, Crypto... ORPHA:79239
Tetrasomy 5P
Recurrent respiratory infections, Failure to thrive, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic ... OMIM:614935
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode ORPHA:33069
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Double Outlet Right Ventricle
Pulmonary artery atresia, Failure to thrive, Cyanosis ORPHA:3426
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Choreoathetosis, Cyanosis, Ataxia, Gait ataxia OMIM:619580
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis ORPHA:896
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Pulmonary artery hypoplasia, D... ORPHA:2326
Pulmonary Arteriovenous Malformation
Cyanosis, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage ORPHA:2038
Poems Syndrome
Weight loss, Paresthesia, Hypogonadism, Hyperesthesia, Erectile dysfunction, Pleural effusion, Ac... ORPHA:2905
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis, Small for gestational age, Anomalous pulmonary venous return ORPHA:555874
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Jaundice, Decreased body weight, Petechiae, Purpura ORPHA:90051
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Cyanosis, Aortopulmonary window, Pulmonary h... ORPHA:99050
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Congenital Tracheomalacia
Cyanosis, Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Rec... ORPHA:95430
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Ataxia ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Ataxia ORPHA:98914
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology, Weight loss, Ur... ORPHA:183
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Double Outlet Left Ventricle
Failure to thrive, Pulmonary artery stenosis, Cyanosis, Cryptorchidism ORPHA:3427
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening... ORPHA:244
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Cyanosis OMIM:619879
Familial Dysautonomia
Recurrent respiratory infections, Ataxia, Abnormal pleura morphology, Impaired pain sensation, Ac... ORPHA:1764
Fucosidosis
Failure to thrive, Acrocyanosis, Vascular skin abnormality ORPHA:349
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Small for gestational age, Failure to thrive in infan... ORPHA:1199
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Tarp Syndrome
Cryptorchidism, Failure to thrive, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Complete Atrioventricular Septal Defect
Failure to thrive, Recurrent pneumonia, Cyanosis ORPHA:1329
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Pulmonary edema ORPHA:31826
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis, Failure to thrive ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Failure to thrive, Cyanosis, Ataxia OMIM:252010
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Pulmonary hypopl... ORPHA:980
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Criss-Cross Heart
Cyanosis ORPHA:1461
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Histiocytoid Cardiomyopathy
Failure to thrive, Cyanosis, Pulmonary edema ORPHA:137675
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Weight loss, Hemosiderin-laden macrophages in bronch... OMIM:233450
Pitt-Hopkins Syndrome
Ataxia, Cryptorchidism, Gait ataxia, Acrocyanosis, Failure to thrive ORPHA:2896
Myasthenia Gravis
Acrocyanosis, Paresthesia ORPHA:589
Congenital Tracheal Stenosis
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... ORPHA:141127
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Hypogonadism, Abnorma... ORPHA:85450
Glycogen Storage Disease Of Heart, Lethal Congenital
Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Pneumonia, Bronchit... ORPHA:125
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... OMIM:187300
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Weight loss, Vasculitis in the skin, Acro... ORPHA:48435
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Failure to thrive, Cyanosis, Total anomalous pulmonary venous return OMIM:306955
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... OMIM:610655
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Impaired pain sensation, Recurrent upper respiratory tract infections, Obesity, Recurre... ORPHA:293987
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... OMIM:600376
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Brui... OMIM:227650
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Delayed menarche, Weight loss... ORPHA:740
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia ORPHA:99103
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Primary Hyperoxaluria
Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Aortic Arch Interruption
Cyanosis, Aortopulmonary window ORPHA:2299
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Failure to thrive, Cyanosis ORPHA:216694
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Cystic Fibrosis
Male infertility, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Fai... OMIM:219700
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Eisenmenger Syndrome
Hypoxemia, Cyanosis, Aortopulmonary window ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... ORPHA:99125
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Decreased body weight OMIM:303600
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Paresthesia, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Generalized Arterial Calcification Of Infancy
Cyanosis, Failure to thrive in infancy ORPHA:51608
Noonan Syndrome 1
Male infertility, Failure to thrive in infancy, Cryptorchidism, Hypogonadism, Chylothorax, Bruisi... OMIM:163950

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 Parp6

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 Parp6.

No publications found that use IMPC mice or data for Parp6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Parp6tm80456(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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