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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 (327 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, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu...	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	Pachygyria, Gray matter heterotopia, Agyria, Intrauterine growth retardation, Subcortical band he...	OMIM:615411
Amyotrophic Lateral Sclerosis 16, Juvenile	Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol...	OMIM:614373
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Simplifie...	OMIM:604317
Band Heterotopia	Polymicrogyria, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia	OMIM:600348
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
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Pachygyria, Agyria, Subcortical band heterotopia, Gray matter heterotopia	OMIM:615412
Lissencephaly 1	Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h...	OMIM:602433
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Acalvaria	Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration	ORPHA:945
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Chudley-Mccullough Syndrome	Polymicrogyria, Hydrocephalus, Gray matter heterotopia	OMIM:604213
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist...	OMIM:611067
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Paucity of anterior h...	OMIM:611890
Periventricular Nodular Heterotopia 6	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:615544
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Periventricular Nodular Heterotopia 7	Periventricular nodular heterotopia, Flexion contracture, Gray matter heterotopia	OMIM:617201
Amyotrophic Lateral Sclerosis 5, Juvenile	Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ge...	ORPHA:52430
Lissencephaly 3	Pachygyria, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly	OMIM:611603
Optic Atrophy 9	Pallor	OMIM:616289
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Spasticity of facial muscles	OMIM:606353
Lissencephaly, X-Linked, 1	Pachygyria, Agyria, Lissencephaly, Gray matter heterotopia	OMIM:300067
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Abnormal motor neuron morphology	OMIM:613724
Chiari Malformation Type Ii	Spina bifida, Gray matter heterotopia, Cervical myelopathy, Syringomyelia, Myelomeningocele, Limb...	OMIM:207950
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
Subependymal Nodular Heterotopia	Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Myelomen...	ORPHA:101030
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple...	ORPHA:1145
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor, Short stature	ORPHA:2786
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia	OMIM:618185
Lethal Congenital Contracture Syndrome 1	Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Hypop...	OMIM:253310
Congenital Muscular Dystrophy Without Intellectual Disability	EMG: myopathic abnormalities, Pachygyria, Gray matter heterotopia, Proximal amyotrophy, Congenita...	ORPHA:370980
Lissencephaly 5	Type II lissencephaly, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia	OMIM:615191
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:1980
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Periventricular ribbonlike heterotopia, Lissencephaly	OMIM:618677
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	EMG: myopathic abnormalities, Macroglossia, Pachygyria, Congenital muscular dystrophy, Muscular d...	OMIM:608840
Optic Atrophy 1	Pallor	OMIM:165500
Auditory Neuropathy And Optic Atrophy	Pallor	OMIM:617717
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Hemimegalencephaly	Abnormal neuron morphology, Polymicrogyria, Pachygyria, Gray matter heterotopia	ORPHA:99802
Retinitis Pigmentosa 70	Pallor	OMIM:615922
Autoimmune Hemolytic Anemia, Cold Type	Pallor	ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:105550
Maternal Hyperthermia-Induced Birth Defects	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:2216
Frontotemporal Dementia With Motor Neuron Disease	Abnormal upper motor neuron morphology, Generalized amyotrophy, Abnormal lower motor neuron morph...	ORPHA:275872
Amyotrophic Lateral Sclerosis 11	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:612577
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture	OMIM:607225
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Breath-Holding Spells	Pallor	OMIM:607578
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Lower limb muscle weakness, Abnormal lower motor neuron morphology	ORPHA:2590
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy...	OMIM:167320
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis	OMIM:615426
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:205250
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Abnormality o...	ORPHA:2772
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Abnormal lower motor neuron morphology	ORPHA:93941
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy	OMIM:215470
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Thanatophoric Dysplasia Type 2	Holoprosencephaly, Atrial septal defect, Hydrocephalus, Abnormality of neuronal migration	ORPHA:93274
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619141
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy	OMIM:608030
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Abnormality of neuronal migration, Intrauterine growt...	ORPHA:89844
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:613954
Neurocutaneous Melanocytosis	Meningocele, Syringomyelia, Abnormality of neuronal migration	ORPHA:2481
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Thanatophoric Dysplasia	Intrauterine growth retardation, Atrial septal defect, Hydrocephalus, Gray matter heterotopia	ORPHA:2655
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Type II lissencephaly, Gray matter heterotopia, Congenital muscular dystrophy, Skel...	ORPHA:370959
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Pallor, Short stature	OMIM:615631
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Short stature	ORPHA:49827
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
3C Syndrome	Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal mi...	ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Type II lissencephaly, Gray matter heterotopia, Muscular dystrophy, Anencephaly, Hydrocephalus	OMIM:615287
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:105400
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:614808
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Abnormal upper motor neuron morphology	OMIM:607694
Walker-Warburg Syndrome	Pachygyria, Muscular dystrophy, Abnormality of neuronal migration, Aplasia/Hypoplasia involving t...	ORPHA:899
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pallor	OMIM:608423
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Neu-Laxova Syndrome	Spina bifida, Arthrogryposis multiplex congenita, Pachygyria, Muscular dystrophy, Flexion contrac...	ORPHA:2671
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Hydrocephalus, Gray matter heterotopia	OMIM:219730
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Pallor	OMIM:600462
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Amyotrophic Lateral Sclerosis 23	Amyotrophic lateral sclerosis	OMIM:617839
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Polymicrogyria Due To Tubb2B Mutation	Pachygyria, Gray matter heterotopia, Polymicrogyria, Perisylvian polymicrogyria, Lissencephaly	ORPHA:300573
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
Lissencephaly 6 With Microcephaly	Pachygyria, Periventricular heterotopia, Polymicrogyria, Limb hypertonia, Simplified gyral patter...	OMIM:616212
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Gray matter heterotopia	OMIM:187600
Desmosterolosis	Anomalous pulmonary venous return, Pachygyria, Abnormality of neuronal migration, Polymicrogyria,...	ORPHA:35107
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Joubert Syndrome	Polymicrogyria, Situs inversus totalis, Hydrocephalus, Abnormality of neuronal migration	ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Pachygyria, Type II lissencephaly, Gray matter heterotopia, Muscular dystrophy, Subcortical heter...	OMIM:614643
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Generalized amyotrophy, Lower limb muscle weakness	OMIM:601162
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Rhabdomyolysis, Abnormality of neuronal migration, Polymicrogyria, Myopathy, Hydrocep...	ORPHA:157
9Q21.13 Microdeletion Syndrome	Syringomyelia, Abnormal heart morphology, Gray matter heterotopia	ORPHA:531151
Mental Retardation, Autosomal Dominant 13	Pachygyria, Abnormality of neuronal migration	OMIM:614563
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyr...	ORPHA:2211
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor, Short stature	OMIM:611590
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly, Gray matter heterotopia	OMIM:615219
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Short stature	OMIM:609053
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Atrial septal defect, Periventricular heterotopia	OMIM:618974
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
Peroxisome Biogenesis Disorder 13A (Zellweger)	Abnormality of neuronal migration	OMIM:614887
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Abno...	ORPHA:261236
Alkuraya-Kucinskas Syndrome	Arthrogryposis multiplex congenita, Gray matter heterotopia, Pericardial effusion, Camptodactyly,...	OMIM:617822
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Machado-Joseph Disease Type 3	Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Degeneration of anter...	ORPHA:276244
Galloway-Mowat Syndrome	Camptodactyly of finger, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration, Intr...	ORPHA:2065
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis	OMIM:615911
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Cardiomegaly, Abnormal myocardium ...	ORPHA:228308
Pagod Syndrome	Spina bifida, Situs inversus totalis, Abnormality of neuronal migration, Meningocele, Hypoplastic...	ORPHA:991
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Primary Myelofibrosis	Petechiae, Pallor, Ecchymosis, Purpura	ORPHA:824
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Myoclonus, Intractable, Neonatal	Pallor	OMIM:617235
Brain Small Vessel Disease 2	Polymicrogyria, Subcortical heterotopia	OMIM:614483
Dravet Syndrome	Pallor	ORPHA:33069
Myelofibrosis	Pallor, Purpura	OMIM:254450
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Fragile X Syndrome	Mitral valve prolapse, Periventricular heterotopia	OMIM:300624
Autosomal Recessive Primary Microcephaly	Pachygyria, Gray matter heterotopia	ORPHA:2512
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Periventricular heterotopia	ORPHA:98892
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Thanatophoric Dysplasia Type 1	Atrial septal defect, Hydrocephalus, Gray matter heterotopia	ORPHA:1860
Irida Syndrome	Pallor	ORPHA:209981
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:608627
Cold Agglutinin Disease	Pallor	ORPHA:56425
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Autoimmune Hemolytic Anemia	Pallor	ORPHA:98375
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased muscle lipid content, Abnormality of neuronal migration, Polymicrogyria, Cardiomegaly, ...	OMIM:608836
Holoprosencephaly	Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Spinal cord t...	ORPHA:2162
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Rheumatic Fever	Pallor, Erythema	ORPHA:3099
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Macroglossia, Atrial septal defect, Branchial anomaly, Gray matter heterotopia, Abnormal heart mo...	ORPHA:453499
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Abnormality of neuronal migration	ORPHA:2318
Myopathy, Mitochondrial, And Ataxia	Growth delay, Pallor, Short stature	OMIM:617675
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	ORPHA:803
Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Orofaciodigital Syndrome I	Abnormal heart morphology, Gray matter heterotopia, Abnormal cortical gyration, Myelomeningocele,...	OMIM:311200
Senior-Loken Syndrome 8	Pallor	OMIM:616307
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
American Trypanosomiasis	Pallor	ORPHA:3386
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons, Dista...	ORPHA:79139
Cach Syndrome	Intrauterine growth retardation, Arthrogryposis multiplex congenita, Dysgyria, Flexion contracture	ORPHA:135
Congenital Dyserythropoietic Anemia Type Iii	Pallor, Short stature	ORPHA:98870
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Periventricular heterotopia	OMIM:618476
Vocal Cord And Pharyngeal Distal Myopathy	Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Amyotrophic lateral scleros...	ORPHA:600
Hereditary Spherocytosis	Growth delay, Pallor, Skin ulcer	ORPHA:822
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:603671
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Increased intramyocellular lipid droplets, Abnormal heart morphology, Gray matt...	ORPHA:26791
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Tay-Sachs Disease	Pallor	OMIM:272800
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619133
Dominant Beta-Thalassemia	Delayed puberty, Pallor, Skin ulcer, Growth delay	ORPHA:231226
Elliptocytosis 1	Pallor	OMIM:611804
Coffin-Lowry Syndrome	Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp...	ORPHA:192
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Miller-Dieker Lissencephaly Syndrome	Pachygyria, Gray matter heterotopia, Abnormal heart morphology, Camptodactyly, Agyria, Joint cont...	OMIM:247200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Oculocerebrocutaneous Syndrome	Gray matter heterotopia	OMIM:164180
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Abnormal lower motor neuron morphology, Distal amyotrophy	OMIM:614298
Lissencephaly Due To Lis1 Mutation	Pachygyria, Anterior predominant thick cortex pachygyria, Dysgyria, Agyria, Posterior predominant...	ORPHA:95232
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Holoprosencephaly, Tetralogy of Fallot, Abnormality of neuronal migration	ORPHA:3186
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Fumarase Deficiency	Pallor	OMIM:606812
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Hydrolethalus Syndrome 1	Agenesis of the diaphragm, Stillbirth, Gray matter heterotopia, Ventricular septal defect, Arrhin...	OMIM:236680
Opitz-Kaveggia Syndrome	Abnormal heart morphology, Gray matter heterotopia, Camptodactyly, Umbilical hernia, Multiple joi...	OMIM:305450
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Intrauterine growth retardation, Abnormality of neuronal migration	ORPHA:2518
Radio-Tartaglia Syndrome	Ventricular septal defect, Gray matter heterotopia	OMIM:619312
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Vici Syndrome	Cardiomyopathy, Gray matter heterotopia	ORPHA:1493
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Beta-Thalassemia Major	Delayed puberty, Pallor, Skin ulcer, Growth delay	ORPHA:231214
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Gray matter heterotopia, Camptodactyly, Flexion ...	OMIM:605039
Sepsis In Premature Infants	Petechiae, Pallor, Purpura	ORPHA:90051
Letterer-Siwe Disease	Pallor	OMIM:246400
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Abnormality of neuronal migration	ORPHA:2063
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Scapular winging, Ventricular septal defect, Periventricular heterotopia, P...	OMIM:618870
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Rare Circulatory System Disease	Pallor	ORPHA:98028
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Pachygyria, Periventricular heterotopia, Ankle flexion contracture, Poly...	ORPHA:468631
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Vici Syndrome	Gray matter heterotopia, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Cardiomy...	OMIM:242840
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Prolactinoma	Delayed puberty, Pallor	ORPHA:2965
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Pyruvate Dehydrogenase E1-Beta Deficiency	Intrauterine growth retardation, Pachygyria, Periventricular heterotopia	ORPHA:255138
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Ane Syndrome	Generalized amyotrophy, Motor neuron atrophy, Multiple joint contractures	ORPHA:157954
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Periventricular heterotopia	OMIM:618929
Incontinentia Pigmenti	Pallor, Short stature, Erythema	OMIM:308300
Waldenström Macroglobulinemia	Pallor, Purpura	ORPHA:33226
Pseudo-Torch Syndrome 2	Polymicrogyria, Gray matter heterotopia	OMIM:617397
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Aregenerative Anemia	Pallor	ORPHA:101096
Sheehan Syndrome	Pallor, Dry skin	ORPHA:91355
Pituitary Apoplexy	Pallor	ORPHA:95613
Adenohypophysitis	Pallor	ORPHA:95512
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Van Maldergem Syndrome 1	Pachygyria, Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopi...	OMIM:601390
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Aicardi Syndrome	Spina bifida, Pachygyria, Polymicrogyria, Gray matter heterotopia	OMIM:304050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Panhypophysitis	Pallor	ORPHA:95513
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Koolen-De Vries Syndrome	Atrial septal defect, Ventricular septal defect, Gray matter heterotopia, Hypotrophy of the small...	OMIM:610443
Arima Syndrome	Gray matter heterotopia, Occipital meningocele	OMIM:243910
Bilateral Perisylvian Polymicrogyria	Flexion contracture, Abnormality of masticatory muscle, Abnormality of neuronal migration, Limb h...	ORPHA:98889
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Cerebrofacioarticular Syndrome	Pulmonic stenosis, Camptodactyly, Abnormal heart morphology, Gray matter heterotopia	ORPHA:314679
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor, Short stature	OMIM:227645
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Periventricular heterotopia	ORPHA:261250
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Polymicrogyria, Macroglossia, Gray matter heterotopia	OMIM:214100
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Growth delay	ORPHA:329971
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Ventricular septal defect, Abnormality of neuronal migration, Aort...	ORPHA:464311
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Pallor, Short stature	OMIM:105650
Fontaine Progeroid Syndrome	Atrial septal defect, Gray matter heterotopia, Periventricular heterotopia, Abnormal heart morpho...	OMIM:612289
Paroxysmal Nocturnal Hemoglobinuria	Pallor	ORPHA:447
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Alg11-Cdg	Limb hypertonia, Gray matter heterotopia	ORPHA:280071
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Type 1 muscle fiber atrophy, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal hear...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Type 1 muscle fiber atrophy, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal hear...	ORPHA:352665
Orofaciodigital Syndrome Type 6	Abnormal heart morphology, Abnormality of neuronal migration	ORPHA:2754
Van Maldergem Syndrome 2	Periventricular nodular heterotopia, Subcortical band heterotopia, Gray matter heterotopia	OMIM:615546
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature	OMIM:600901
Ritscher-Schinzel Syndrome 3	Periventricular nodular heterotopia, Atrioventricular canal defect	OMIM:619135
Joubert Syndrome With Hepatic Defect	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1454
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
Fanconi Anemia, Complementation Group D2	Anemic pallor, Patent ductus arteriosus, Short stature	OMIM:227646
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Superficial Siderosis	Dysgyria, Atrophy of the spinal cord, Lower limb muscle weakness, Abnormality of the spinal cord	ORPHA:247245
Orofaciodigital Syndrome Xiv	Atrial septal defect, Ventricular septal defect, Periventricular heterotopia, Holoprosencephaly, ...	OMIM:615948
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Pallor	ORPHA:91347
Neuromuscular Oculoauditory Syndrome	EMG: myopathic abnormalities, Periventricular heterotopia, Wrist flexion contracture, Knee flexio...	OMIM:618733
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Atrial septal defect, Pachygyria, Stillbirth, Gray matter heterotopia, Flexion contracture, Knee ...	OMIM:210710
Idiopathic Hypereosinophilic Syndrome	Pallor	ORPHA:3260
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Blackfan-Diamond Anemia	Growth delay, Pallor, Short stature	ORPHA:124
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly, Polymicrogyria, Gray matter heterotopia	OMIM:618820
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Periventricular heterotopia, Ventricular septal defect, Holoprosencephaly, ...	OMIM:270400
6Q Terminal Deletion Syndrome	Abnormality of neuronal migration, Polymicrogyria, Gray matter heterotopia, Periventricular heter...	ORPHA:75857
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor	ORPHA:667
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Skeletal muscle atrophy, Abnormality of neuronal migration	ORPHA:647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Periventricular Nodular Heterotopia 9	Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia	OMIM:618918
Mismatch Repair Cancer Syndrome 1	Rhabdomyosarcoma, Gray matter heterotopia	OMIM:276300
Visceral Steatosis, Congenital	Neonatal death, Myocardial steatosis	OMIM:228100
Proteus Syndrome	Myofibrillar myopathy, Sirenomelia, Decreased muscle mass, Gray matter heterotopia	ORPHA:744
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect, Periventricular heterotopia, Knee flexion contra...	OMIM:606170
Goodpasture Syndrome	Pallor	OMIM:233450
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 heart morphology, Periventricular heterotopia, Camptodactyly, Flexion contracture, Abnor...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal heart morphology, Periventricular heterotopia, Ventricular septal defect, Camptodactyly,...	ORPHA:261552
Mowat-Wilson Syndrome	Periventricular heterotopia, Abnormal heart morphology, Camptodactyly, Flexion contracture, Pulmo...	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.

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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)}		Targeting vectors

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