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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 (324 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	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro...	OMIM:607641
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda...	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	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	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	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hydrocephalus, Polymicrogyria	OMIM:604213
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist...	OMIM:611067
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n...	OMIM:611890
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal motor neuron morpho...	ORPHA:52430
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty...	OMIM:615191
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
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	Abnormal upper motor neuron morphology, Spasticity of facial muscles	OMIM:606353
Band Heterotopia	Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Syri...	OMIM:207950
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:602099
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture	OMIM:607225
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N...	OMIM:253310
Optic Atrophy 1	Pallor	OMIM:165500
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles	OMIM:614373
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:1980
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness	ORPHA:2590
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, Abnormality of ...	OMIM:608840
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	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, Generalized amyotrophy, Abnormal upper motor neuron morph...	ORPHA:275872
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Maternal Hyperthermia-Induced Birth Defects	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:2216
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Breath-Holding Spells	Pallor	OMIM:607578
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Pallor	OMIM:613561
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy	OMIM:215470
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Atrial septal...	ORPHA:93274
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology	ORPHA:93941
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, ...	ORPHA:370959
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Congenital Heart Block	Intrauterine growth retardation, Patent ductus arteriosus, Pallor	ORPHA:60041
Hemoglobin D Disease	Pallor	ORPHA:90039
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:611895
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H...	OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619141
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Atrial septal def...	ORPHA:89844
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Abnormality o...	ORPHA:2772
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Syringomyelia	ORPHA:2481
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy	OMIM:608030
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Short stature, Pallor	OMIM:615631
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:105400
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
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Bicuspid aortic valve, Abnormality of neuronal migration	OMIM:300049
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abnormality of neuron...	ORPHA:7
Thanatophoric Dysplasia	Atrial septal defect, Intrauterine growth retardation, Hydrocephalus, Gray matter heterotopia	ORPHA:2655
Walker-Warburg Syndrome	Skeletal muscle atrophy, Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:899
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li...	OMIM:615219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Lissencephaly, Pachygy...	OMIM:616212
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele	OMIM:164180
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria	ORPHA:300573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Hydrocephalus, Gray matter heterotopia, Lissencep...	OMIM:614643
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Joubert Syndrome	Encephalocele, Situs inversus totalis, Hydrocephalus, Abnormality of neuronal migration, Polymicr...	ORPHA:475
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Neu-Laxova Syndrome	Skeletal muscle atrophy, Abnormal cortical gyration, Spina bifida, Polymicrogyria, Flexion contra...	ORPHA:2671
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology	ORPHA:412066
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
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
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Desmosterolosis	Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Anomalous pulmonary...	ORPHA:35107
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventricular septal defect	OMIM:219730
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Short stature, Pallor	OMIM:609053
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Syringomyelia, Abnormal heart morphology	ORPHA:531151
Dravet Syndrome	Pallor	ORPHA:33069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Growth delay, Pallor, Delayed puberty	OMIM:600462
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Rhabdomyolysis, Abnormality of neuronal migration, Cardiomyopathy, Myopathy, Pachy...	ORPHA:157
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, De...	ORPHA:276244
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Periventricular heterotopia	OMIM:618974
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal amyotrophy, Proximal amyotrophy	OMIM:608627
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Generalized amyotrophy	OMIM:601162
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Pagod Syndrome	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Situs inversus totalis, Meningocele...	ORPHA:991
Galloway-Mowat Syndrome	Camptodactyly of finger, Aqueductal stenosis, Abnormality of neuronal migration, Intrauterine gro...	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
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Abnormality of neuronal migration, Holoprosen...	ORPHA:261236
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Abnormal myocardi...	ORPHA:228308
Irida Syndrome	Pallor	ORPHA:209981
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Myelofibrosis	Pallor, Purpura	OMIM:254450
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Hydrocephalus, Gray matter heterotopia, Lissencephaly, Camptodactyly, Arthr...	OMIM:617822
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Camptodactyly, Knee flexion contracture	OMIM:619694
Holoprosencephaly 14	Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterot...	OMIM:619895
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:2318
Cold Agglutinin Disease	Pallor	ORPHA:56425
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Periventricular heterotopia	ORPHA:98892
Thanatophoric Dysplasia Type 1	Atrial septal defect, Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Fragile X Syndrome	Periventricular heterotopia, Mitral valve prolapse	OMIM:300624
Glutathionuria	Gray matter heterotopia	OMIM:231950
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Facial palsy, Paucit...	ORPHA:79139
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Abnormality of the ...	ORPHA:600
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor	ORPHA:98870
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra...	ORPHA:2162
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus	OMIM:187600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Macroglossia, Branch...	ORPHA:453499
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Intrauterine growth retardation, Hydrocephalus, Distal arthrogryposis, Periventricular heterotopia	OMIM:619833
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
American Trypanosomiasis	Pallor	ORPHA:3386
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619133
Tay-Sachs Disease	Pallor	OMIM:272800
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het...	OMIM:615287
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Hereditary Spherocytosis	Growth delay, Pallor, Skin ulcer	ORPHA:822
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Dominant Beta-Thalassemia	Growth delay, Pallor, Skin ulcer, Delayed puberty	ORPHA:231226
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion contracture, ...	OMIM:608836
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
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, Scapular winging, Rhabdomyolysis, Abnormal heart morphology, Cardiomyopa...	ORPHA:26791
Elliptocytosis 1	Pallor	OMIM:611804
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fi...	ORPHA:1320
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Sepsis In Premature Infants	Pallor, Petechiae, Purpura	ORPHA:90051
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Gray matter heterotopia, Polymicrogyria	OMIM:617397
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Periventricular heterotopia, Atrial septal defect, P...	OMIM:618870
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Distal amyotrophy	OMIM:614298
Miller-Dieker Lissencephaly Syndrome	Abnormal heart morphology, Joint contracture of the hand, Gray matter heterotopia, Lissencephaly,...	OMIM:247200
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Abnormality of neuronal migration, Abnormal tricuspid valve morphology, ...	ORPHA:192
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Letterer-Siwe Disease	Pallor	OMIM:246400
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Ventricular septal defect, Coronary artery fistula, Gray matter heterotop...	OMIM:620024
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Beta-Thalassemia Major	Growth delay, Pallor, Skin ulcer, Delayed puberty	ORPHA:231214
Radio-Tartaglia Syndrome	Gray matter heterotopia, Ventricular septal defect	OMIM:619312
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:1454
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Opitz-Kaveggia Syndrome	Multiple joint contractures, Hydrocephalus, Abnormal heart morphology, Gray matter heterotopia, C...	OMIM:305450
Waldenström Macroglobulinemia	Pallor, Purpura	ORPHA:33226
Ane Syndrome	Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy	ORPHA:157954
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Upper-limb joint contracture, Distal amyo...	ORPHA:300605
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis	OMIM:615911
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:2518
Vici Syndrome	Gray matter heterotopia, Cardiomyopathy	ORPHA:1493
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Tetralogy of Fallot, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Adenohypophysitis	Pallor	ORPHA:95512
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:2063
Bohring-Opitz Syndrome	Ventricular septal defect, Flexion contracture, Gray matter heterotopia, Camptodactyly, Atrial se...	OMIM:605039
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Spina bifida occulta, Short stature, Pallor	OMIM:105650
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Hydrolethalus Syndrome 1	Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricular canal defect, An...	OMIM:236680
Panhypophysitis	Pallor	ORPHA:95513
Aregenerative Anemia	Pallor	ORPHA:101096
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Periventricular heterotopia	OMIM:618929
Incontinentia Pigmenti	Erythema, Short stature, Pallor	OMIM:308300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Periventricular ...	ORPHA:468631
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Pituitary Apoplexy	Pallor	ORPHA:95613
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Gray matt...	OMIM:610443
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Camptodactyly, P...	OMIM:601390
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Pachygyria, Periventricular heterotopia	ORPHA:255138
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Gray matt...	OMIM:311200
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Abnormal cortical gyrat...	OMIM:210710
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor, Short stature	OMIM:227645
Bilateral Perisylvian Polymicrogyria	Weakness of facial musculature, Flexion contracture, Perisylvian predominant thick cortex pachygy...	ORPHA:98889
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Fumarase Deficiency	Pallor	OMIM:606812
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor	ORPHA:329971
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Periventricular heterotopia	OMIM:618476
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Camptodactyly, Pulmonic stenosis, Abnormal heart morphology	ORPHA:314679
Aicardi Syndrome	Gray matter heterotopia, Pachygyria, Polymicrogyria, Spina bifida	OMIM:304050
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Periventricular heterotopia	ORPHA:261250
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Abnormal heart morphology	ORPHA:2754
Alg11-Cdg	Gray matter heterotopia, Limb hypertonia	ORPHA:280071
Acromelic Frontonasal Dysostosis	Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia	OMIM:603671
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Abnormality of neuronal migration, Intraute...	ORPHA:464311
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Macroglossia, Polymicrogyria, Ventricular septal defect	OMIM:214100
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Degcags Syndrome	Intrauterine growth retardation, Patent ductus arteriosus, Pallor	OMIM:619488
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Periventricular heterotopia, Hypoplasia of the abdom...	OMIM:612289
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature	OMIM:600901
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Macroglossia, Polymicrogyria	OMIM:619775
Fanconi Anemia, Complementation Group A	Anemic pallor, Short stature	OMIM:227650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor...	ORPHA:352665
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Anemic pallor, Short stature	OMIM:227646
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Gray matter heterotopia, Atrial septal defect, ...	OMIM:242840
Idiopathic Hypereosinophilic Syndrome	Pallor	ORPHA:3260
Tsh-Secreting Pituitary Adenoma	Pallor, Delayed puberty	ORPHA:91347
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Periventricular heterotopia, Simplified gyral...	OMIM:615948
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Diamond-Blackfan Anemia	Growth delay, Short stature, Pallor	ORPHA:124
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necr...	OMIM:618733
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor	ORPHA:667
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Arima Syndrome	Gray matter heterotopia, Occipital meningocele	OMIM:243910
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria, Holoprosencephaly	OMIM:618820
Von Hippel-Lindau Disease	Pallor	ORPHA:892
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter...	ORPHA:75857
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Periventricular heterotopia, Hydrocephalus, Holoprosencephaly, Atrial ...	OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Abnormality of neuronal migration, Rhabdomyosarcoma	ORPHA:647
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
Proteus Syndrome	Gray matter heterotopia, Myofibrillar myopathy, Decreased muscle mass, Sirenomelia	ORPHA:744
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Periventricular heterotopia, Knee flexion contracture...	OMIM:606170
Congenital Total Pulmonary Venous Return Anomaly	Patent ductus arteriosus, Pallor	ORPHA:99125
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Periventricular heterotopia	ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Periventricular heterotopia, Flexion ...	ORPHA:261537
Mowat-Wilson Syndrome	Bicuspid aortic valve, Periventricular heterotopia, Flexion contracture, Abnormal heart morpholog...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Periventri...	ORPHA:261552
Homozygous Familial Hypercholesterolemia	Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis	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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