Gene Summary

Name:
protein kinase N2
Synonyms:
Prkcl2,  PRK2,  6030436C20Rik,  Stk7

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating unsaturated transferrin level Pkn2tm1b(KOMP)Wtsi HET Early adult 1.18×10-07
decreased exploration in new environment Pkn2tm1b(KOMP)Wtsi HET Early adult 3.63×10-11
decreased circulating HDL cholesterol level Pkn2tm1b(KOMP)Wtsi HET Early adult 3.80×10-05
increased startle reflex Pkn2tm1b(KOMP)Wtsi HET Early adult 1.18×10-09
abnormal retina morphology Pkn2tm1b(KOMP)Wtsi HET   Early adult 4.02×10-06
preweaning lethality, complete penetrance Pkn2tm1b(KOMP)Wtsi HOM   Early adult 5.66×10-06
decreased circulating total protein level Pkn2tm1b(KOMP)Wtsi HET Early adult 7.40×10-06
abnormal retinal vasculature morphology Pkn2tm1b(KOMP)Wtsi HET   Early adult 7.71×10-05
decreased circulating cholesterol level Pkn2tm1b(KOMP)Wtsi HET Early adult 1.59×10-05
increased circulating bilirubin level Pkn2tm1b(KOMP)Wtsi HET Early adult 6.78×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

28 Images

Human diseases caused by Pkn2 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 Pkn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Malaria
Cognitive impairment, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, ... ORPHA:673
Crigler-Najjar Syndrome Type 1
Tremor, Unconjugated hyperbilirubinemia, Memory impairment, Neonatal hyperbilirubinemia ORPHA:79234
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Aggressive behavior OMIM:608093
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor OMIM:610539
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Retinal dystrophy, Steatorrhea, Rod-cone dystrophy OMIM:266510
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Retinal dystrophy, Hyperbilirubinemia ORPHA:713
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Squalene Synthase Deficiency
Hypocholesterolemia, Optic nerve hypoplasia, Increased circulating farnesol concentration, Irrita... OMIM:618156
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Omenn Syndrome
Hypoproteinemia OMIM:603554
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Dengue Fever
Hypoproteinemia ORPHA:99828
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration OMIM:601775
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity OMIM:616278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Acalvaria
Holoprosencephaly, Abnormality of neuronal migration, Spina bifida, Hydrocephalus ORPHA:945
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Chédiak-Higashi Syndrome
Hypoproteinemia, Abnormality of retinal pigmentation, Hyponatremia, Dementia, Cognitive impairmen... ORPHA:167
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Retinal dysplasia OMIM:613154
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia OMIM:607765
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Retinopathy ORPHA:71
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Elevated circulating creatine kinase concentration, Hypocholesterolemia, Rod-cone ... ORPHA:96180
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Hypermanganesemia With Dystonia 1
Tremor, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Webbed neck, Spina bifida, Low posterior hairline, Short neck, Congeni... ORPHA:2345
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia OMIM:235555
Aceruloplasminemia
Dementia, Aceruloplasminemia, Retinal degeneration, Decreased serum iron, Increased circulating f... OMIM:604290
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprote... OMIM:207750
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... OMIM:616860
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Pierson Syndrome
Hypoproteinemia OMIM:609049
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Hepatoportal Sclerosis
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Hypocholesterolemia... ORPHA:14
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Steatorrhea, Abnormal serum bile acid concentration, Hyperbilirubi... ORPHA:79303
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Bachmann-Bupp Syndrome
Aggressive behavior, Hyperbilirubinemia OMIM:619075
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Patent du... ORPHA:1120
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Distal Xq28 Microduplication Syndrome
Anxiety, Aggressive behavior, Self-biting, Neonatal hyperbilirubinemia ORPHA:293939
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Abnormal heart m... ORPHA:453499
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Retinal Venous Beading
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Retinal infa... OMIM:180080
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Cognitive impairment, Apathy, Progressive neurolog... ORPHA:247691
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Apathy, ... ORPHA:3008
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Tay-Sachs Disease
Dementia, Cherry red spot of the macula, Apathy, Exaggerated startle response, Psychomotor deteri... OMIM:272800
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Rod-cone dystrophy, Hypoalbuminemia OMIM:212065
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Chiari Malformation Type Ii
Gray matter heterotopia, Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Craniofacial Microsomia
Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, Hydrocephalus, Tetralogy ... OMIM:164210
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Amish Lethal Microcephaly
Spina bifida, Lissencephaly ORPHA:99742
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Increased t... ORPHA:3202
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Low posterior hairline, Short neck, Cervical spina bifida OMIM:600122
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Cherry red spot of the macula, Cognitive impairment, Exag... ORPHA:309246
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Holoprosencephaly
Abnormality of neuronal migration, Ventricular septal defect, Holoprosencephaly, Branchial anomal... ORPHA:2162
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Dehydration ORPHA:2260
Bor Syndrome
Branchial cyst ORPHA:107
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Webbed neck, Endocardial fibroelastosis, Cystic hygroma,... ORPHA:99776
Czeizel-Losonci Syndrome
Dextrocardia, Myelomeningocele, Thickened nuchal skin fold, Spina bifida, Hydrocephalus, Spina bi... ORPHA:2437
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma free carnitine, Elevated circulating long chain fatty acid concentration, Increa... OMIM:608836
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolapse, Patent ductu... ORPHA:261337
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Abnormality of dental eruption ORPHA:1327
Graft Versus Host Disease
Irritability, Hyperbilirubinemia ORPHA:39812
Autoimmune Hepatitis
Anxiety, Increased total bilirubin ORPHA:2137
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Retinal detachment, Hypoalbuminemia ORPHA:79324
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Fountain Syndrome
Spina bifida, Facial edema, Spina bifida occulta ORPHA:3219
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cystic hygroma, Bran... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cystic hygroma, Bran... ORPHA:352665
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Vitreous hemorrhage, Hyperbilirubinemia, Retinal hemorrhage ORPHA:464321
Hyperlipoproteinemia, Type I
Lipemia retinalis, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increased circulating ... OMIM:238600
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Optic disc pallor OMIM:244450
Leptospirosis
Hyperproteinemia, Chorioretinitis, Optic neuritis, Papilledema, Macular cotton wool spot, Retinal... ORPHA:509
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia ORPHA:567983
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Limitation of neck motion, H... ORPHA:268810
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypoalbuminemia ORPHA:88673
Reynolds Syndrome
Calcinosis, Steatorrhea, Hyperbilirubinemia OMIM:613471
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Hypoplastic left heart, Atrial septal defect, Aortic valve stenosis, Spinal dysr... OMIM:617660
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Iniencephaly
Anencephaly, Myelomeningocele, Holoprosencephaly, Cystic hygroma, Lissencephaly, Polyhydramnios, ... ORPHA:63259
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Emotional lability, Exaggerated startle response ORPHA:3198
Cerebrocostomandibular Syndrome
Meningocele, Ventricular septal defect, Hydranencephaly, Myelomeningocele, Webbed neck, Spina bifida ORPHA:1393
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Exaggerated... OMIM:253800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Head titubation, Chorioretinal coloboma, Suicidal ideation, Cognitive impairmen... OMIM:619475
Senior-Boichis Syndrome
Suicidal ideation, Aggressive behavior, Increased total bilirubin ORPHA:84081
Lathosterolosis
Hyperbilirubinemia, Abnormal circulating cholesterol concentration OMIM:607330
Neu-Laxova Syndrome 1
Short umbilical cord, Ventricular septal defect, Hydranencephaly, Stillbirth, Small placenta, Pat... OMIM:256520
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia OMIM:229600
Tay-Sachs Disease
Optic atrophy, Cherry red spot of the macula, Exaggerated startle response, Tremor, Increased ser... ORPHA:845
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Polyhydramnios, Pachygyria, Macrog... ORPHA:2671
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
X-Linked Intellectual Disability, Nascimento Type
Aggressive behavior, Neonatal hyperbilirubinemia ORPHA:163956
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Aggressive behavior, Self-mutilation, Elevated 7-dehydrocholesterol OMIM:270400
Trisomy 20P
Low posterior hairline, Short neck, Spina bifida, Umbilical hernia ORPHA:261318
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Pagod Syndrome
Meningocele, Abnormality of neuronal migration, Situs inversus totalis, Hypoplastic left heart, S... ORPHA:991
Focal Dermal Hypoplasia
Ventricular septal defect, Patent ductus arteriosus, Spina bifida, Abnormal cardiac septum morpho... ORPHA:2092
Hardikar Syndrome
Irritability, Hyperbilirubinemia, Pigmentary retinopathy OMIM:301068
Limb Body Wall Complex
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Anencephaly, Myelomeningocele, A... ORPHA:2369
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Trisomy 18
Ventricular septal defect, Anencephaly, Holoprosencephaly, Webbed neck, Spina bifida, Atrial sept... ORPHA:3380
Vacterl With Hydrocephalus
Arrhinencephaly, Polyhydramnios, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Stiff-Person Syndrome
Agoraphobia, Anxiety, Opisthotonus, Exaggerated startle response OMIM:184850
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida, Atrioventricular canal defect, Patent ductus arteriosus OMIM:619480
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2-Gangliosidosis, Ab Variant
Dementia, Apathy, Exaggerated startle response OMIM:272750
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Congenital Disorder Of Glycosylation, Type Iim
Rod-cone dystrophy, Neonatal hyperbilirubinemia OMIM:300896
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Increased erythrocyte protoporphyrin concentration, Unconjugated hyper... ORPHA:79277
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma OMIM:109400
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Tetralogy of Fallot, Atrial septal defect, Edema of the ... OMIM:274000
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Nail-Patella Syndrome
Spina bifida OMIM:161200
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Ventricular septal defect, Tricuspid atresia, Occipital myelomening... ORPHA:567
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Jacobsen Syndrome
Ventricular septal defect, Webbed neck, Pachygyria, Spina bifida, Hypoplastic left heart, Short n... ORPHA:2308
Fanconi Anemia
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Patent ductus arteriosus, Spina bi... ORPHA:84
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decrea... ORPHA:447
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Spina bifida, Polymicrogyria OMIM:304050
Branchiooculofacial Syndrome
Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Limb tremor, Irritability, Exaggerated startle response OMIM:608643
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great a... OMIM:192350
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida OMIM:234100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Cognitive impairment, Exaggerated startle response OMIM:617527
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Anxiety, Exaggerated startle response ORPHA:438216
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363958
Semilobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Neural tube defect, Abnormal heart morphology, Delayed eruption of teeth, Short neck, Umbilical h... ORPHA:798
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cherry red spot of the macula ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Exstrophy-Epispadias Complex
Abnormal heart morphology, Spina bifida, Hydrocephalus ORPHA:322
Split Cord Malformation
Meningocele, Hydromyelia, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomening... ORPHA:573278
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Optic disc pallor, Decreased serum iron ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Pkn2

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 Pkn2.

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MGI Allele Allele Type Produced
Pkn2tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pkn2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pkn2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pkn2tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pkn2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pkn2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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