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Gene: Pak4 MGI:1917834

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

p21 (RAC1) activated kinase 4

Synonyms:

5730488L07Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pak4 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.

Human diseases associated with Pak4 (0 diseases)
Human diseases predicted to be associated with Pak4 (328 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pak4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes...	OMIM:607641
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy	OMIM:183020
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Intrauterine growth retardation, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band he...	OMIM:615411
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Hydrocephalus	OMIM:618709
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hydrocephalus, Polymicrogyria	OMIM:604213
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Facial diplegia, Neonatal death,...	OMIM:611890
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,...	OMIM:611603
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Amyotrophic late...	ORPHA:52430
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria	ORPHA:101029
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Lissencephaly, X-Linked, 1	Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Subependymal Nodular Heterotopia	Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas...	ORPHA:101030
Lissencephaly 5	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic...	OMIM:615191
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:616437
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Abnormal upper motor neuron morphology	OMIM:606353
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:2216
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Syringomyelia, Hydrocephalus, Spina ...	OMIM:207950
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep...	OMIM:604317
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:602099
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Polymicrogyria	OMIM:600348
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ...	OMIM:253310
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Amyotrophic Lateral Sclerosis 16, Juvenile	Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness	OMIM:614373
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Lower limb muscle weakness	ORPHA:2590
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:1980
Hemimegalencephaly	Pachygyria, Gray matter heterotopia, Abnormal neuron morphology, Polymicrogyria	ORPHA:99802
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Abnormality of neur...	OMIM:608840
Amyotrophic Lateral Sclerosis 4, Juvenile	Distal amyotrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy...	OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:105550
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot...	ORPHA:275872
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Breath-Holding Spells	Pallor	OMIM:607578
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy	OMIM:215470
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Pallor	OMIM:613561
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture	OMIM:607225
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
Optic Atrophy 1	Pallor	OMIM:165500
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Atrial septal defect, Holoprosen...	ORPHA:93274
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Proximal amyotrophy...	ORPHA:370980
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis	OMIM:615426
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology	ORPHA:93941
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Occipital encephalocele, Cardiomyopathy, Polymicrogyria, Type II lissencephal...	ORPHA:370959
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Congenital Heart Block	Intrauterine growth retardation, Pallor, Patent ductus arteriosus	ORPHA:60041
Hemoglobin D Disease	Pallor	ORPHA:90039
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619141
Amyotrophic Lateral Sclerosis 2, Juvenile	Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n...	OMIM:205100
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Patent foramen ovale, Abnormality of neuronal migration, Microli...	ORPHA:89844
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy, Amyotrophic lateral sclerosis	OMIM:608030
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Intrauterine growth retardation, Abnormality of neuronal migration, Ventr...	ORPHA:2772
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Neurocutaneous Melanocytosis	Syringomyelia, Meningocele, Abnormality of neuronal migration	ORPHA:2481
Anemia, Congenital Dyserythropoietic, Type Ib	Short stature, Growth delay, Pallor	OMIM:615631
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Degeneration of anterior horn cells	OMIM:105400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:617892
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:614808
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia	OMIM:300049
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Atrial septal defect, Gray matter heterotopia, Right atrial enlargement, Communica...	OMIM:615219
Thanatophoric Dysplasia	Gray matter heterotopia, Intrauterine growth retardation, Hydrocephalus, Atrial septal defect	ORPHA:2655
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Polymicro...	OMIM:617201
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Periventricular heterotopia, Simplified gyral pattern	OMIM:616171
Lissencephaly 6 With Microcephaly	Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Limb hypertonia, Pachygyria, Lis...	OMIM:616212
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele	OMIM:164180
Polymicrogyria Due To Tubb2B Mutation	Polymicrogyria, Pachygyria, Gray matter heterotopia, Lissencephaly, Perisylvian polymicrogyria	ORPHA:300573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Muscular dystrophy, Polymicrogyria, Type II lissencephaly, Encephalocele, Hydrocephalus, Pachygyr...	OMIM:614643
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612069
Joubert Syndrome	Polymicrogyria, Situs inversus totalis, Encephalocele, Abnormality of neuronal migration, Hydroce...	ORPHA:475
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Walker-Warburg Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal cortical gyra...	ORPHA:899
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal cortical gyra...	ORPHA:2671
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Dravet Syndrome	Pallor	ORPHA:33069
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Pallor, Growth delay	OMIM:600462
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventricular septal defect	OMIM:219730
Machado-Joseph Disease Type 3	Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotrophy, Abnorm...	ORPHA:276244
Fanconi Anemia, Complementation Group I	Short stature, Intrauterine growth retardation, Pallor	OMIM:609053
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Primary Myelofibrosis	Purpura, Petechiae, Pallor, Ecchymosis	ORPHA:824
9Q21.13 Microdeletion Syndrome	Abnormal heart morphology, Syringomyelia, Gray matter heterotopia	ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Polymicrogyria, Rhabdomyolysis, Myopathy, Abnormality of neuronal migration, Hydr...	ORPHA:157
Desmosterolosis	Lissencephaly, Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retardation, Abnor...	ORPHA:35107
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia, Atrial septal defect, Ventricular septal defect	OMIM:618974
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Generalized amyotrophy	OMIM:601162
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Galloway-Mowat Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Abnormality of neuronal migration, Pach...	ORPHA:2065
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Pagod Syndrome	Hypoplastic left heart, Situs inversus totalis, Congenital diaphragmatic hernia, Encephalocele, A...	ORPHA:991
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Irida Syndrome	Pallor	ORPHA:209981
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Polymicrogyria, Cardiomegaly, Abnormality of neuronal migration, Abnormal myocard...	ORPHA:228308
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Ventricular septal defect, Abnormality of neuronal migration, Atrial sep...	ORPHA:261236
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Alkuraya-Kucinskas Syndrome	Arthrogryposis multiplex congenita, Gray matter heterotopia, Hydrocephalus, Camptodactyly, Perica...	OMIM:617822
Developmental Delay With Variable Neurologic And Brain Abnormalities	Camptodactyly, Gray matter heterotopia, Knee flexion contracture	OMIM:619694
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Holoprosencephaly 14	Alobar holoprosencephaly, Periventricular heterotopia, Ventricular septal defect, Double outlet r...	OMIM:619895
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy	OMIM:608627
Cold Agglutinin Disease	Pallor	ORPHA:56425
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Encephalocele	ORPHA:2318
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Short stature, Intrauterine growth retardation, Pallor	OMIM:301310
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l...	ORPHA:803
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Periventricular heterotopia	ORPHA:98892
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Atrial septal defect, Hydrocephalus	ORPHA:1860
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Fragile X Syndrome	Periventricular heterotopia, Mitral valve prolapse	OMIM:300624
Japanese Encephalitis	Skeletal muscle atrophy, Elbow flexion contracture, Distal lower limb muscle weakness, Paucity of...	ORPHA:79139
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Pallor	OMIM:617675
Myelofibrosis	Purpura, Pallor	OMIM:254450
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor	ORPHA:98870
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Glutathionuria	Gray matter heterotopia	OMIM:231950
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Neonatal death	OMIM:187600
American Trypanosomiasis	Pallor	ORPHA:3386
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Branch...	ORPHA:453499
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Holoprosencephaly	Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Congenital diaphragmati...	ORPHA:2162
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Intrauterine growth retardation, Periventricular heterotopia, Hydrocephalus, Distal arthrogryposis	OMIM:619833
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Distal upper lim...	ORPHA:600
Tay-Sachs Disease	Pallor	OMIM:272800
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619133
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria	OMIM:617622
Dominant Beta-Thalassemia	Delayed puberty, Skin ulcer, Pallor, Growth delay	ORPHA:231226
Hereditary Spherocytosis	Growth delay, Skin ulcer, Pallor	ORPHA:822
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Polymicrogyria, Elbow flexion contracture, Increased muscle lipid content...	OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Hydromyelia, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, G...	OMIM:615287
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Abnormal heart morphology, Rhabdomyolysis, Increased int...	ORPHA:26791
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia, Patent foramen ovale, Ventricular septal defect, Atrial septal defec...	OMIM:618870
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Idiopathic Camptocormia	Myelitis, Amyotrophic lateral sclerosis, Proximal spinal muscular atrophy, Abnormal muscle fiber ...	ORPHA:1320
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Secundum atrial septal defect, Polymicrogyria	OMIM:617397
Elliptocytosis 1	Pallor	OMIM:611804
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Pachygyria, Abnormal heart morphology, Intrauterine growth retarda...	OMIM:247200
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Distal amyotrophy, Scapular winging	OMIM:614298
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Abnormal tricuspid valve morphology, Abnormal aortic valve morphology, A...	ORPHA:192
Beta-Thalassemia Major	Delayed puberty, Skin ulcer, Pallor, Growth delay	ORPHA:231214
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Occipital encephalocele, Hydrocephalus	ORPHA:1454
Letterer-Siwe Disease	Pallor	OMIM:246400
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Pachygy...	OMIM:620024
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Radio-Tartaglia Syndrome	Gray matter heterotopia, Ventricular septal defect	OMIM:619312
Ane Syndrome	Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy	ORPHA:157954
Waldenström Macroglobulinemia	Purpura, Pallor	ORPHA:33226
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis	OMIM:615911
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl...	ORPHA:300605
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Multiple joint contra...	OMIM:305450
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:2518
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Vici Syndrome	Gray matter heterotopia, Cardiomyopathy	ORPHA:1493
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Adenohypophysitis	Pallor	ORPHA:95512
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Prolactinoma	Delayed puberty, Pallor	ORPHA:2965
Bohring-Opitz Syndrome	Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Camptodactyly, ...	OMIM:605039
Panhypophysitis	Pallor	ORPHA:95513
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:2063
Diamond-Blackfan Anemia 1	Short stature, Spina bifida occulta, Intrauterine growth retardation, Pallor	OMIM:105650
Aregenerative Anemia	Pallor	ORPHA:101096
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Camptodactyly of finger, Polymicrogyria, Intrauterine growth retardati...	ORPHA:468631
Incontinentia Pigmenti	Short stature, Erythema, Pallor	OMIM:308300
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Periventricular heterotopia, Dextrocardia	OMIM:618929
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Intrauterine growth retardation, Complete atrioventricular canal defe...	OMIM:236680
Koolen-De Vries Syndrome	Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of ...	OMIM:610443
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Abnormal heart morphology, Hydrocephalus, Gray matt...	OMIM:311200
Pituitary Apoplexy	Pallor	ORPHA:95613
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Gray...	OMIM:620654
Van Maldergem Syndrome 1	Pachygyria, Periventricular nodular heterotopia, Camptodactyly, Gray matter heterotopia, Subcorti...	OMIM:601390
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Intrauterine growth retardation, Periventricular heterotopia	ORPHA:255138
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Fumarase Deficiency	Pallor	OMIM:606812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Fanconi Anemia, Complementation Group C	Short stature, Intrauterine growth retardation, Anemic pallor	OMIM:227645
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Shoulder flexion contracture, Polymicrogyria, Tetralogy of Fallot, El...	OMIM:210710
Bilateral Perisylvian Polymicrogyria	Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex pachygyria, Intrauteri...	ORPHA:98889
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Growth delay	ORPHA:329971
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor	OMIM:277400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Hydrocephalus	OMIM:618476
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia, Umbilical hernia	OMIM:620475
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Neonatal death	OMIM:614887
Cerebrofacioarticular Syndrome	Abnormal heart morphology, Camptodactyly, Gray matter heterotopia, Pulmonic stenosis	ORPHA:314679
Aicardi Syndrome	Pachygyria, Gray matter heterotopia, Spina bifida, Polymicrogyria	OMIM:304050
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
Alg11-Cdg	Gray matter heterotopia, Limb hypertonia	ORPHA:280071
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Periventricular heterotopia, Ventricular septal defect	ORPHA:261250
Orofaciodigital Syndrome Type 6	Abnormal heart morphology, Abnormality of neuronal migration	ORPHA:2754
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ankle flexion contracture, Intrauterine growth retardation, Ventricular se...	ORPHA:464311
Galloway-Mowat Syndrome 1	Joint contracture of the hand, Pachygyria, Intrauterine growth retardation, Abnormality of neuron...	OMIM:251300
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Degcags Syndrome	Intrauterine growth retardation, Pallor, Patent ductus arteriosus	OMIM:619488
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Peroxisome Biogenesis Disorder 1A (Zellweger)	Polymicrogyria, Macroglossia, Gray matter heterotopia, Ventricular septal defect	OMIM:214100
Fanconi Anemia, Complementation Group E	Short stature, Anemic pallor	OMIM:600901
Fontaine Progeroid Syndrome	Umbilical hernia, Abnormal heart morphology, Intrauterine growth retardation, Periventricular het...	OMIM:612289
Fanconi Anemia, Complementation Group A	Short stature, Anemic pallor	OMIM:227650
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Macroglossia, Polymicrogyria	OMIM:619775
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Atrial septal def...	OMIM:242840
Fanconi Anemia, Complementation Group D2	Short stature, Anemic pallor, Patent ductus arteriosus	OMIM:227646
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, T...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, T...	ORPHA:352665
Neuroblastoma	Anemic pallor	ORPHA:635
Idiopathic Hypereosinophilic Syndrome	Pallor	ORPHA:3260
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Pallor	ORPHA:91347
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Ventricular septal defect, ...	OMIM:615948
Diamond-Blackfan Anemia	Short stature, Growth delay, Pallor	ORPHA:124
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Knee flexion contracture, Wrist flexion contracture, Calf muscle hyp...	OMIM:618733
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor	ORPHA:667
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Arima Syndrome	Gray matter heterotopia, Occipital meningocele	OMIM:243910
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Holoprosencephaly, Polymicrogyria	OMIM:618820
6Q Terminal Deletion Syndrome	Abnormality of neuronal migration, Gray matter heterotopia, Periventricular heterotopia, Polymicr...	ORPHA:75857
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele	OMIM:603671
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Periventricular heterotopia, Ventri...	OMIM:270400
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Rhabdomyosarcoma, Skeletal muscle atrophy	ORPHA:647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Rhabdomyosarcoma	OMIM:276300
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Goodpasture Syndrome	Pallor	OMIM:233450
Genitopatellar Syndrome	Periventricular heterotopia, Knee flexion contracture, Hip contracture, Ventricular septal defect...	OMIM:606170
Congenital Total Pulmonary Venous Return Anomaly	Pallor, Patent ductus arteriosus	ORPHA:99125
Proteus Syndrome	Myofibrillar myopathy, Sirenomelia, Gray matter heterotopia, Decreased muscle mass	ORPHA:744
Orofaciodigital Syndrome Type 14	Periventricular heterotopia, Ventricular septal defect	ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Polymicrogyria, Tetralogy of Fallot, Abnormal heart morphology, Abnormal p...	ORPHA:261537
Mowat-Wilson Syndrome	Aortic valve stenosis, Polymicrogyria, Tetralogy of Fallot, Abnormal heart morphology, Periventri...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Polymicrogyria, Tetralogy of Fallot, Abnormal heart morphology, Abnormal p...	ORPHA:261552
Homozygous Familial Hypercholesterolemia	Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology	ORPHA:391665

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 Pak4

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 Pak4.

No publications found that use IMPC mice or data for Pak4.

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
Pak4^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Pak4^{tm402304(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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