Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (333 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, Type Viib	Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma...	OMIM:607641
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology	OMIM:183020
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut...	OMIM:615411
Amyotrophic Lateral Sclerosis 16, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:614373
Band Heterotopia	Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia	OMIM:600348
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli...	OMIM:604317
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Lissencephaly 1	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	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	Hydrocephalus, Gray matter heterotopia, Polymicrogyria	OMIM:604213
Acalvaria	Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly	ORPHA:945
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D...	OMIM:611067
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele	ORPHA:352682
Microlissencephaly	Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,...	ORPHA:1083
Congenital Arthrogryposis With Anterior Horn Cell Disease	Facial diplegia, Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn c...	OMIM:611890
Periventricular Nodular Heterotopia 6	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:615544
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Agyria, Pachygyria, Gray matter heterotopia	ORPHA:1084
Periventricular Nodular Heterotopia 7	Periventricular nodular heterotopia, Gray matter heterotopia, Flexion contracture	OMIM:617201
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabili...	ORPHA:52430
Lissencephaly 3	Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria	OMIM:611603
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Spasticity of facial muscles	OMIM:606353
Subependymal Nodular Heterotopia	Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Men...	ORPHA:101030
Optic Atrophy 9	Pallor	OMIM:616289
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria	ORPHA:101029
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ...	OMIM:613954
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Lissencephaly, X-Linked, 1	Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly	OMIM:300067
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Abnormal motor neuron morphology	OMIM:613724
Lissencephaly 5	Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi...	OMIM:615191
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Retinohepatoendocrinologic Syndrome	Pallor	OMIM:268040
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:616437
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o...	ORPHA:1145
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Limb muscle weakness, Syringomyelia, Sp...	OMIM:207950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor, Short stature	ORPHA:2786
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:602099
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp...	OMIM:253310
Congenital Muscular Dystrophy Without Intellectual Disability	Facial diplegia, Reduced muscle fiber alpha dystroglycan, Gray matter heterotopia, EMG: myopathic...	ORPHA:370980
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:1980
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Hand muscle weakness, Rimmed vacuoles, Increased variability in mu...	OMIM:606070
Optic Atrophy 1	Pallor	OMIM:165500
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Auditory Neuropathy And Optic Atrophy	Pallor	OMIM:617717
Retinitis Pigmentosa 70	Pallor	OMIM:615922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Pachygyria, EMG: myopat...	OMIM:608840
Autoimmune Hemolytic Anemia, Cold Type	Pallor	ORPHA:228312
Dermatitis, Atopic	Pallor, Dry skin, Facial erythema	OMIM:603165
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t...	OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:105550
Hemimegalencephaly	Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria	ORPHA:99802
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Lower limb muscle weakness	ORPHA:2590
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot...	ORPHA:275872
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:2216
Breath-Holding Spells	Pallor	OMIM:607578
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
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor, Growth delay	OMIM:615234
Thanatophoric Dysplasia Type 2	Hydrocephalus, Atrial septal defect, Holoprosencephaly, Abnormality of neuronal migration, Enceph...	ORPHA:93274
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy	OMIM:215470
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	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:205250
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology	ORPHA:93941
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Abnormality of neuronal migration, Intrauterine growth retardation, Hy...	ORPHA:2772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Gray matter heterotopia, Muscular dystrophy, Anencephaly, Type II lissencephaly, O...	OMIM:615287
Congenital Muscular Dystrophy With Cerebellar Involvement	Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Gray matter heterotopia, Hypoglycosylatio...	ORPHA:370959
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:612577
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, 4-layered lissencephaly, Patent foramen ovale, Abnormality of neuronal migr...	ORPHA:89844
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:611895
Amyotrophic Lateral Sclerosis 2, Juvenile	Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di...	OMIM:205100
Hemoglobin D Disease	Pallor	ORPHA:90039
Myoclonus, Intractable, Neonatal	Pallor	OMIM:617235
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619141
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy	OMIM:608030
Amyotrophic Lateral Sclerosis 23	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells	OMIM:617839
Primary Lateral Sclerosis	Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology	ORPHA:35689
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Cyclic Vomiting Syndrome	Pallor, Growth delay	OMIM:500007
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor, Growth delay, Short stature	OMIM:615631
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Short stature	ORPHA:49827
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Syringomyelia, Meningocele	ORPHA:2481
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Skeletal muscle atrophy	OMIM:105400
Thanatophoric Dysplasia	Intrauterine growth retardation, Hydrocephalus, Gray matter heterotopia, Atrial septal defect	ORPHA:2655
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
3C Syndrome	Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp...	ORPHA:7
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:614808
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia	OMIM:300049
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pallor	OMIM:608423
Walker-Warburg Syndrome	Hydrocephalus, Muscular dystrophy, Polymicrogyria, Abnormal cortical gyration, Aplasia/Hypoplasia...	ORPHA:899
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Gray matter heterotopia	OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Gray matter heterotopia, Pachygyria, Muscular dystrophy, Polymicrogyria, Type II l...	OMIM:614643
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Joubert Syndrome	Hydrocephalus, Polymicrogyria, Situs inversus totalis, Abnormality of neuronal migration, Encepha...	ORPHA:475
Neu-Laxova Syndrome	Intrauterine growth retardation, Flexion contracture, Muscular dystrophy, Polymicrogyria, Abnorma...	ORPHA:2671
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Hydrocephalus, Gray matter heterotopia	OMIM:219730
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor, Delayed puberty	OMIM:600462
Spastic Paraplegia 9A, Autosomal Dominant	Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness	OMIM:601162
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Limb hypertonia, Polymicrogyria, Lissencephaly, Simplified gyral pat...	OMIM:616212
Desmosterolosis	Hydrocephalus, Anomalous pulmonary venous return, Polymicrogyria, Abnormal cortical gyration, Lis...	ORPHA:35107
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:612069
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Pachygyria, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality...	ORPHA:2211
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia	OMIM:603671
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor, Short stature	OMIM:611590
9Q21.13 Microdeletion Syndrome	Syringomyelia, Gray matter heterotopia, Abnormal heart morphology	ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Polymicrogyria, Rhabdomyolysis, Abnormality of neuronal migration, Pachygyria, Car...	ORPHA:157
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Periventricular heterotopia, Atrial septal defect	OMIM:618974
Fanconi Anemia, Complementation Group I	Pallor, Intrauterine growth retardation, Short stature	OMIM:609053
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly	OMIM:615219
Peroxisome Biogenesis Disorder 13A (Zellweger)	Abnormality of neuronal migration	OMIM:614887
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Beta-Thalassemia	Skin ulcer, Pallor	ORPHA:848
Leishmaniasis	Skin ulcer, Pallor	ORPHA:507
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria	ORPHA:300573
Machado-Joseph Disease Type 3	Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Spinocerebellar trac...	ORPHA:276244
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Camptodactyly, Lissencephaly, Arthrogryposis multiplex co...	OMIM:617822
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Pyruvate Kinase Deficiency Of Red Cells	Pallor, Intrauterine growth retardation	OMIM:266200
Pagod Syndrome	Congenital diaphragmatic hernia, Hypoplastic left heart, Situs inversus totalis, Meningocele, Abn...	ORPHA:991
Dravet Syndrome	Pallor	ORPHA:33069
16P13.11 Microdeletion Syndrome	Atrial septal defect, Holoprosencephaly, Camptodactyly of finger, Ventricular septal defect, Abno...	ORPHA:261236
Galloway-Mowat Syndrome	Aqueductal stenosis, Camptodactyly of finger, Abnormality of neuronal migration, Pachygyria, Intr...	ORPHA:2065
Primary Myelofibrosis	Pallor, Purpura, Ecchymosis, Petechiae	ORPHA:824
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Polymicrogyria, Abnormal myocardium morphology, Abnormality of neuronal migration,...	ORPHA:228308
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Knee flexion contracture, Camptodactyly	OMIM:619694
Myelofibrosis	Pallor, Purpura	OMIM:254450
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Autosomal Recessive Primary Microcephaly	Pachygyria, Gray matter heterotopia	ORPHA:2512
Holoprosencephaly 14	Double outlet right ventricle, Hydrocephalus, Periventricular heterotopia, Alobar holoprosencepha...	OMIM:619895
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Encephalocele	ORPHA:2318
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy	OMIM:608627
Irida Syndrome	Pallor	ORPHA:209981
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Periventricular heterotopia	ORPHA:98892
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Cold Agglutinin Disease	Pallor	ORPHA:56425
Thanatophoric Dysplasia Type 1	Hydrocephalus, Gray matter heterotopia, Atrial septal defect	ORPHA:1860
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Autoimmune Hemolytic Anemia	Pallor	ORPHA:98375
Fragile X Syndrome	Mitral valve prolapse, Periventricular heterotopia	OMIM:300624
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Retinitis Pigmentosa 75	Pallor	OMIM:617023
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Holoprosencephaly	Abnormal pulmonary valve morphology, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosence...	ORPHA:2162
Rheumatic Fever	Pallor, Erythema	ORPHA:3099
Thanatophoric Dysplasia, Type I	Hydrocephalus, Gray matter heterotopia, Neonatal death	OMIM:187600
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Myopathy, Mitochondrial, And Ataxia	Pallor, Growth delay, Short stature	OMIM:617675
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Atrioventricu...	ORPHA:453499
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons, Elbow...	ORPHA:79139
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Congenital Dyserythropoietic Anemia Type Iii	Pallor, Short stature	ORPHA:98870
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	ORPHA:803
American Trypanosomiasis	Pallor	ORPHA:3386
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Distal arthrogryposis, Hydrocephalus, Intrauterine growth retardation, Periventricular heterotopia	OMIM:619833
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ...	ORPHA:600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Increased muscle lipid content, Dilated cardiomyopathy, Elbow flexion contracture...	OMIM:608836
Hereditary Spherocytosis	Skin ulcer, Growth delay, Pallor	ORPHA:822
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619133
Tay-Sachs Disease	Pallor	OMIM:272800
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Periventricular heterotopia	OMIM:618476
Elliptocytosis 1	Pallor	OMIM:611804
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Dominant Beta-Thalassemia	Skin ulcer, Growth delay, Pallor, Delayed puberty	ORPHA:231226
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Joint contracture of the hand, Camptodactyly, Agyria, Lissencephaly, Pac...	OMIM:247200
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Increased intramyocellular lipid droplets, Rhabdomyolysis, Scapular wing...	ORPHA:26791
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor, Growth delay	ORPHA:300298
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Coffin-Lowry Syndrome	Abnormal mitral valve morphology, Abnormal aortic valve morphology, Abnormality of neuronal migra...	ORPHA:192
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia, Atrial septal defect, Ventricular septal defect, Patent foramen oval...	OMIM:618870
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Atrial septal defect, Neonatal death, Ventricular septal defect, Frontal...	OMIM:620024
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Abnormality of neuronal migration	ORPHA:163681
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Myelitis, Abnormal muscle fiber dysf...	ORPHA:1320
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Gray matter heterotopia, Anencephaly, Arrhinencephaly, Severe hy...	OMIM:236680
Fumarase Deficiency	Pallor	OMIM:606812
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Radio-Tartaglia Syndrome	Ventricular septal defect, Gray matter heterotopia	OMIM:619312
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Secundum atrial septal defect, Polymicrogyria	OMIM:617397
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Distal amyotrophy	OMIM:614298
Sepsis In Premature Infants	Pallor, Purpura, Petechiae	ORPHA:90051
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Opitz-Kaveggia Syndrome	Multiple joint contractures, Hydrocephalus, Gray matter heterotopia, Joint contracture of the han...	OMIM:305450
Letterer-Siwe Disease	Pallor	OMIM:246400
Vici Syndrome	Gray matter heterotopia, Cardiomyopathy	ORPHA:1493
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:2518
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele	ORPHA:1454
Beta-Thalassemia Major	Skin ulcer, Growth delay, Pallor, Delayed puberty	ORPHA:231214
Beta-Thalassemia Intermedia	Skin ulcer, Pallor	ORPHA:231222
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Rare Circulatory System Disease	Pallor	ORPHA:98028
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Abnormal he...	OMIM:311200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Overriding aorta, Tetralogy of Fallot, Holoprosencephaly	ORPHA:3186
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joi...	ORPHA:300605
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:2063
Bohring-Opitz Syndrome	Gray matter heterotopia, Atrial septal defect, Flexion contracture, Camptodactyly, Ventricular se...	OMIM:605039
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Waldenström Macroglobulinemia	Pallor, Purpura	ORPHA:33226
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis	OMIM:615911
Ane Syndrome	Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy	ORPHA:157954
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Periventricular heterotopia, Intrauterine growth retardation, Pachyg...	ORPHA:468631
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Periventricular heterotopia, Atrioventricular canal defect	OMIM:618929
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Intrauterine growth retardation, Pachygyria	ORPHA:255138
Vici Syndrome	Gray matter heterotopia, Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, My...	OMIM:242840
Aregenerative Anemia	Pallor	ORPHA:101096
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Sheehan Syndrome	Pallor, Dry skin	ORPHA:91355
Pituitary Apoplexy	Pallor	ORPHA:95613
Koolen-De Vries Syndrome	Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Pulmonic stenosis, Ventricu...	OMIM:610443
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Adenohypophysitis	Pallor	ORPHA:95512
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Van Maldergem Syndrome 1	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl...	OMIM:601390
Incontinentia Pigmenti	Pallor, Erythema, Short stature	OMIM:308300
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Panhypophysitis	Pallor	ORPHA:95513
Aicardi Syndrome	Gray matter heterotopia, Pachygyria, Spina bifida, Polymicrogyria	OMIM:304050
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Bilateral Perisylvian Polymicrogyria	Facial diplegia, Bilateral perisylvian polymicrogyria, Flexion contracture, Weakness of facial mu...	ORPHA:98889
Fanconi Anemia, Complementation Group C	Anemic pallor, Intrauterine growth retardation, Short stature	OMIM:227645
Arima Syndrome	Occipital meningocele, Gray matter heterotopia	OMIM:243910
Cerebrofacioarticular Syndrome	Pulmonic stenosis, Gray matter heterotopia, Camptodactyly, Abnormal heart morphology	ORPHA:314679
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Periventricular heterotopia, Dilated cardiomyopathy	ORPHA:261250
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor	ORPHA:329971
Diamond-Blackfan Anemia 1	Pallor, Intrauterine growth retardation, Short stature	OMIM:105650
Alg11-Cdg	Limb hypertonia, Gray matter heterotopia	ORPHA:280071
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Aortic valve stenosis, Ventricular septal defect, Abnormality of n...	ORPHA:464311
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Gray matter heterotopia, Polymicrogyria, Macroglossia	OMIM:214100
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Abnormal heart morphology	ORPHA:2754
Orofaciodigital Syndrome Xiv	Periventricular heterotopia, Atrial septal defect, Holoprosencephaly, Polymicrogyria, Ventricular...	OMIM:615948
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Gray matter heterotopia, Periventricu...	OMIM:612289
Degcags Syndrome	Pallor, Patent ductus arteriosus, Intrauterine growth retardation	OMIM:619488
Pearson Marrow-Pancreas Syndrome	Pallor, Erythema	OMIM:557000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Type 1 muscle...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Type 1 muscle...	ORPHA:352665
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria, Macroglossia	OMIM:619775
Van Maldergem Syndrome 2	Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia	OMIM:615546
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature	OMIM:600901
Esophageal Atresia	Pallor, Growth delay	ORPHA:1199
Fanconi Anemia, Complementation Group A	Anemic pallor, Short stature	OMIM:227650
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Intrauterine growth retardation, Gray matter heterotopia, Atrial septal defect, ...	OMIM:210710
Fanconi Anemia, Complementation Group D2	Anemic pallor, Patent ductus arteriosus, Short stature	OMIM:227646
Neuromuscular Oculoauditory Syndrome	Muscle fiber necrosis, Periventricular heterotopia, EMG: myopathic abnormalities, Calf muscle hyp...	OMIM:618733
Idiopathic Hypereosinophilic Syndrome	Pallor	ORPHA:3260
Tsh-Secreting Pituitary Adenoma	Pallor, Delayed puberty	ORPHA:91347
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Blackfan-Diamond Anemia	Pallor, Growth delay, Short stature	ORPHA:124
Autosomal Recessive Malignant Osteopetrosis	Pallor, Growth delay	ORPHA:667
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Polymicrogyria, Holoprosencephaly	OMIM:618820
6Q Terminal Deletion Syndrome	Abnormality of neuronal migration, Periventricular heterotopia, Gray matter heterotopia, Polymicr...	ORPHA:75857
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Periventricular heterotopia, Atrial septal defect, Holoprosencephaly, Ventricular ...	OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Skeletal muscle atrophy, Abnormality of neuronal migration	ORPHA:647
Periventricular Nodular Heterotopia 9	Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria	OMIM:618918
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Rhabdomyosarcoma	OMIM:276300
Visceral Steatosis, Congenital	Myocardial steatosis, Neonatal death	OMIM:228100
Proteus Syndrome	Gray matter heterotopia, Myofibrillar myopathy, Decreased muscle mass, Sirenomelia	ORPHA:744
Goodpasture Syndrome	Pallor	OMIM:233450
Genitopatellar Syndrome	Hip contracture, Periventricular heterotopia, Atrial septal defect, Ventricular septal defect, Kn...	OMIM:606170
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Periventricular heterotopia	ORPHA:434179
Congenital Total Pulmonary Venous Return Anomaly	Pallor, Patent ductus arteriosus	ORPHA:99125
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v...	ORPHA:261552
Mowat-Wilson Syndrome	Abnormal cardiac septum morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic va...	ORPHA:2152
Homozygous Familial Hypercholesterolemia	Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis	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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us