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
preweaning lethality, complete penetrance Pskh1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased heart weight Pskh1tm1b(EUCOMM)Wtsi HET Early adult 7.21×10-08
hemorrhage Pskh1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
edema Pskh1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
increased fasting circulating glucose level Pskh1tm1b(EUCOMM)Wtsi HET Early adult 1.48×10-14
improved glucose tolerance Pskh1tm1b(EUCOMM)Wtsi HET Early adult 1.65×10-05

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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
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
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Section

39 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E12.5

Images

2 Images

Gross Morphology Embryo E18.5

Images

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
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, Atrial septal defect, Situs inversus totalis OMIM:601322
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Lipedema
Edema OMIM:614103
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:300991
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:608644
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Double outlet right ventricle, Me... OMIM:605376
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Recurrent respiratory... OMIM:617092
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Absent ou... OMIM:613193
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... OMIM:614679
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis, Sinusitis, Recur... OMIM:615505
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Chron... OMIM:612518
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Chronic bronchitis OMIM:615451
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Ciliary Dyskinesia, Primary, 9
Recurrent sinusitis, Situs inversus totalis, Pneumonia, Bronchiectasis OMIM:612444
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Chronic bronch... OMIM:616037
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... OMIM:618063
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Abnormal heart morphology OMIM:618300
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Situs inversus totalis, Bronchiectasis, Chronic sinusitis OMIM:614017
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent inner and ou... OMIM:615444
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Nasal polyposis, Abnormal axonemal org... OMIM:613808
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Chronic br... OMIM:615500
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent inner and ou... OMIM:614935
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Situs inversus t... ORPHA:244
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Recurrent sinusitis, Situs inversus totalis, Chronic bronchitis OMIM:614874
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal axo... OMIM:613807
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Pulmonary h... OMIM:615415
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... ORPHA:3097
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis OMIM:613686
Dextrocardia
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... ORPHA:1666
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Situs inversus totalis, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Bacterial endocarditis, C... ORPHA:1330
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Lymphatic Malformation 2
Lymphedema OMIM:611944
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis OMIM:613095
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Situs inversus totalis, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis,... OMIM:244400
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Persistent left superior vena ca... OMIM:609008
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Abnormal heart morphology, Hypoinsulinem... ORPHA:99886
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Wide nasal bridge, Pulmonary artery atresia, T... ORPHA:1908
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Nephronophthisis 2
Pulmonary hypoplasia, Situs inversus totalis OMIM:602088
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema OMIM:154800
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Situs inversus totalis ORPHA:990
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Hemochromatosis, Type 4
Impaired glucose tolerance, Glucose intolerance, Cardiomyopathy OMIM:606069
White Sponge Nevus 2
Edema OMIM:615785
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Hydrops fetalis, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Ri... OMIM:267010
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Wide... ORPHA:2184
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Abdominal situ... OMIM:306955
Joubert Syndrome
Prominent nasal bridge, Anteverted nares, Situs inversus totalis ORPHA:475
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia OMIM:605676
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... ORPHA:289
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Double outlet right ventricle,... OMIM:614886
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Cardiomegal... OMIM:601005
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypopl... ORPHA:991
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, Cardiomegaly, R... OMIM:212140
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Abnormal heart morphology, Abnormal larynx morphology, Abnormal epiglotti... ORPHA:1505
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Maternal Phenylketonuria
Abnormal heart morphology, Ventricular septal defect, Wide nasal bridge, Double outlet right vent... ORPHA:2209
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Prominent nose OMIM:221950
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Tetralogy of Fallot, Transposition o... ORPHA:1913
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Edema OMIM:180080
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... ORPHA:2847
Lymphatic Malformation 10
Lymphedema OMIM:619369
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Hematochezia ORPHA:103910
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventr... ORPHA:371428
Carpenter Syndrome 2
Narrow naris, Situs inversus totalis, Atrial septal defect, Patent ductus arteriosus, Wide nasal ... OMIM:614976
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Pulmonic stenosis, Double outlet right ventricle, Ventricular septal de... OMIM:301056
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Dextrocardia, Situs inversus totalis, Ventricular septal... ORPHA:2461
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... OMIM:618223
Giant Cell Arteritis
Recurrent pharyngitis, Pericarditis, Abnormal pleura morphology, Double outlet right ventricle wi... ORPHA:397
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Tracheoesophageal fistula, Transposition of the great a... OMIM:314390
X-Linked Intellectual Disability, Nascimento Type
Underdeveloped nasal alae, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmon... ORPHA:163956
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Hemochromatosis, Type 1
Glucose intolerance, Hepatomegaly, Cardiomegaly, Splenomegaly, Diabetes mellitus, Cardiomyopathy OMIM:235200
Renpenning Syndrome 1
Atrial septal defect, Situs inversus totalis, Bulbous nose, Ventricular septal defect, Wide nasal... OMIM:309500
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Transposition of the ... ORPHA:1727
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the nose, Double outlet right ven... OMIM:301043
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1926
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Edema, Aortic regurgitation ORPHA:1054
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Nonimmune hydrops fet... OMIM:616843
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Pulmonic stenosis, Tetralogy of Fallo... OMIM:610205
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Bulbous nose, Transposition of the great arteries, Depressed nasal bridge OMIM:616789
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... ORPHA:2257
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Ring Chromosome 7 Syndrome
Narrow naris, Situs inversus totalis, Short nose, Anteverted nares, Wide nasal bridge, Prominent ... ORPHA:1449
Frank-Ter Haar Syndrome
Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Broad nasal tip, ... OMIM:249420
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Meckel Syndrome
Situs inversus totalis ORPHA:564
Distal Monosomy 15Q
Broad nasal tip, Mitral atresia, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, Transposition of the great arteries, Prominent nose OMIM:617982
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Abnormal pulmonary interstitial morphology, Double... ORPHA:2331
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect, Anteverted nares, Transp... OMIM:617877
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Tetralogy of Fallot, Anteverted nares, Tracheoesophageal... ORPHA:1780
Johanson-Blizzard Syndrome
Atrial septal defect, Situs inversus totalis, Underdeveloped nasal alae, Ventricular septal defec... OMIM:243800
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arc... OMIM:300166
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Conotruncal defect, Anteverted nares, Atrioventricular canal defect ORPHA:40366
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Abnormal cardiac septum morphology, Aortic valve stenosis, Coarctation of aorta, Tetr... ORPHA:96147
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tet... OMIM:201000
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Choanal atresia, Pulmo... OMIM:214800
Kleefstra Syndrome 1
Conotruncal defect, Anteverted nares, Recurrent respiratory infections, Tracheobronchomalacia OMIM:610253
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Doors Syndrome
Bulbous nose, Wide nasal bridge, Double outlet right ventricle, Aspiration pneumonia, Broad nasal... ORPHA:79500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Alveolar capillary dysplasia, Pulm... OMIM:265380
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Wide nasal bridge, Tetralogy of ... OMIM:280000
Facial Dysmorphism With Multiple Malformations
Short nose, Bulbous nose, Ventricular septal defect, Wide nasal bridge, Tetralogy of Fallot, Tran... OMIM:227255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Restrictive Dermopathy
Atrial septal defect, Choanal atresia, Patent ductus arteriosus, Dextrocardia, Pulmonary hypoplas... ORPHA:1662
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Transposition of the great arteries, Ventricular se... ORPHA:3474
Vater/Vacterl Association
Abnormal nasopharynx morphology, Ventricular septal defect, Patent ductus arteriosus, Choanal atr... OMIM:192350
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Patent foramen ovale, ... OMIM:256520
Simpson-Golabi-Behmel Syndrome, Type 1
Short nose, Ventricular septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic sten... 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.

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MGI Allele Allele Type Produced
Pskh1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, 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 (post-Cre) Mice
Pskh1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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