Gene Summary

Name:
protein serine kinase H1
Synonyms:
E130013P03Rik,  b2b1230Clo

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
improved glucose tolerance Pskh1tm1b(EUCOMM)Wtsi HET Early adult 1.54×10-05
increased heart weight Pskh1tm1b(EUCOMM)Wtsi HET Early adult 5.21×10-08
preweaning lethality, complete penetrance Pskh1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased fasting circulating glucose level Pskh1tm1b(EUCOMM)Wtsi HET Early adult 8.46×10-13
edema Pskh1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
hemorrhage Pskh1tm1b(EUCOMM)Wtsi HOM E15.5 0.00

Download data as:  TSV  XLS

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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 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

39 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

Gross Morphology Embryo E12.5

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Pskh1 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 Pskh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Mirror Movements 3
Situs inversus totalis OMIM:616059
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Lipedema
Edema OMIM:614103
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615504
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... OMIM:208530
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615505
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardi... OMIM:615482
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Situs inversus totalis, Dextrocardia OMIM:619607
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620197
Ethanolaminosis
Cardiomegaly OMIM:227150
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:612444
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620438
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615500
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:616481
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:614935
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... OMIM:608647
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis OMIM:614874
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurrent respirator... OMIM:613807
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:612650
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot... ORPHA:3097
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent ... OMIM:620642
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Dextrocardia
Abnormality of abdominal situs, Abnormal lung lobation, Abnormal heart morphology, Situs inversus... ORPHA:1666
Preeclampsia/Eclampsia 1
Hypertension, Edema OMIM:189800
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect OMIM:249270
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia, Transient neonata... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis OMIM:244400
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,... OMIM:270100
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heterotaxy, Truncus arteriosus, Ventricular septal d... ORPHA:3426
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema OMIM:154800
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, U... OMIM:613686
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
White Sponge Nevus 2
Edema OMIM:615785
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Ri... OMIM:267010
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Fetal Encasement Syndrome
Tetralogy of Fallot, Bilateral trilobed lung OMIM:613630
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs inversus totalis... ORPHA:289
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy OMIM:600649
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... ORPHA:991
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Joubert Syndrome
Situs inversus totalis ORPHA:475
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Situs inversus totalis, Atrial septal defect, Patent ductus arteriosus, Pu... OMIM:208540
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Congenital alve... OMIM:608978
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Lymphatic Malformation 10
Lymphedema OMIM:619369
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... OMIM:301056
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Dehydration, Edema ORPHA:103910
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... ORPHA:552
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... ORPHA:371428
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Giant Cell Arteritis
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Transposition of the great art... OMIM:314390
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Situs inversus totalis, Dextrocardia, Ventricular septal... ORPHA:2461
Cardiogenic Shock
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... ORPHA:97292
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Mitr... ORPHA:163956
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Edema, Congestive heart failure ORPHA:1054
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal heart morpholo... ORPHA:980
Thoracoabdominal Syndrome
Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect, Ventricular septal defect OMIM:309500
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... OMIM:614976
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... OMIM:618164
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Biliary, Renal, Neurologic, And Skeletal Syndrome
Primum atrial septal defect, Unbalanced atrioventricular canal defect, Secundum atrial septal def... OMIM:619534
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis OMIM:615812
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary a... OMIM:280000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis OMIM:618223
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Meckel Syndrome
Situs inversus totalis ORPHA:564
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Kawasaki Disease
Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul... ORPHA:2331
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Ring Chromosome 7 Syndrome
Situs inversus totalis ORPHA:1449
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Vent... OMIM:619503
Carpenter Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... OMIM:201000
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Holt-Oram Syndrome
Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric... OMIM:142900
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Vascular dilatation, A... OMIM:243800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Doors Syndrome
Double outlet right ventricle, Aspiration pneumonia ORPHA:79500
Chime Syndrome
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... ORPHA:3474
Restrictive Dermopathy
Pulmonary hypoplasia, Transposition of the great arteries, Atrial septal defect, Dextrocardia, Pa... ORPHA:1662
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... OMIM:612474
Neu-Laxova Syndrome 1
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Patent duct... OMIM:256520
Vater/Vacterl Association
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s... OMIM:192350
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Right ventricula... OMIM:312870

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 Pskh1

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 Pskh1.

No publications found that use IMPC mice or data for Pskh1.

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
Pskh1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pskh1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pskh1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pskh1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pskh1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pskh1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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