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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 (326 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	Lower limb muscle weakness, Hand muscle atrophy, Abnormal lower motor neuron morphology, Weakness...	OMIM:607641
Spinal Muscular Atrophy, Segmental	Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology, Hand muscle atrophy	OMIM:183020
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut...	OMIM:615411
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
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	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
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hydrocephalus, Polymicrogyria	OMIM:604213
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration	ORPHA:945
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower motor neuron morphology, S...	OMIM:611067
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Hydrocephalus, Dysgyria, Type II lissencephaly, Occipital encephalocele	ORPHA:352682
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Facial diplegia, Skeletal muscle atrophy, Neonatal death,...	OMIM:611890
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Agyria, Pachygyria	ORPHA:1084
Lissencephaly 3	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ...	OMIM:611603
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized...	ORPHA:52430
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Periventricular nodular heterotopia	OMIM:608097
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria	ORPHA:101029
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p...	OMIM:613954
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Agyria, Pachygyria	OMIM:300067
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormal motor neuron morphology, Torticollis	OMIM:613724
Subependymal Nodular Heterotopia	Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Occipi...	ORPHA:101030
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Lissencephaly 5	Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi...	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
Chiari Malformation Type Ii	Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical m...	OMIM:207950
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Spasticity of facial muscles	OMIM:606353
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha...	OMIM:604317
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:602099
Band Heterotopia	Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Infantile-Onset X-Linked Spinal Muscular Atrophy	Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Degeneration of anterior horn...	ORPHA:1145
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Hypoplasia of the musculature, Skeletal muscle atrophy, N...	OMIM:253310
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Fatty replacement of skeletal muscle, Congenital muscular dystrophy, Ach...	ORPHA:370980
Optic Atrophy 1	Pallor	OMIM:165500
Amyotrophic Lateral Sclerosis 16, Juvenile	Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness	OMIM:614373
Amyotrophic Lateral Sclerosis 21	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul...	OMIM:606070
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:1980
Dermatitis, Atopic	Facial erythema, Dry skin, Pallor	OMIM:603165
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Autoimmune Hemolytic Anemia, Cold Type	Pallor	ORPHA:228312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Joint contracture of the hand, Calf muscle hypertrophy, Muscul...	OMIM:608840
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness	ORPHA:2590
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Amyotrophic Lateral Sclerosis 4, Juvenile	Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col...	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 upper motor neuron morphology, Abnormal lower motor neuron morphology, Generalized amyot...	ORPHA:275872
Hemimegalencephaly	Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:2216
Breath-Holding Spells	Pallor	OMIM:607578
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c...	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
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture	OMIM:607225
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Atrial septal defect, Holoprosen...	ORPHA:93274
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis	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
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Gray matter heterotopia, Congenital muscular dystrophy, Hydrocephalus, Reduced mu...	ORPHA:370959
Hemoglobin D Disease	Pallor	ORPHA:90039
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Amyotrophic Lateral Sclerosis 2, Juvenile	Retrocollis, Spasticity of facial muscles, Distal lower limb amyotrophy, Hand muscle atrophy, Abn...	OMIM:205100
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Abnormality of neuronal migration, Intrauterine growth retardation, Ventr...	ORPHA:2772
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619141
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Abnormality of neuronal migration, 4-layered lissencephaly, Atrial septal d...	ORPHA:89844
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Syringomyelia	ORPHA:2481
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy, Amyotrophic lateral sclerosis	OMIM:608030
Amyotrophic Lateral Sclerosis 23	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells	OMIM:617839
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Short stature, Pallor	OMIM:615631
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells	OMIM:105400
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 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:614808
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus, Intrauterine growth retardation, Atrial septal defect	ORPHA:2655
3C Syndrome	Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnor...	ORPHA:7
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Walker-Warburg Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Muscular dystrophy, Macrogyria, Hy...	ORPHA:899
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Simplified gyral pattern, Intrauterine growth retardation	OMIM:616171
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Pachygyria, Polymicrogyria	ORPHA:300573
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele	OMIM:164180
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612069
Periventricular Nodular Heterotopia 7	Knee flexion contracture, Gray matter heterotopia, Ventricular septal defect, Elbow contracture, ...	OMIM:617201
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Limb hypertonia, Simplified gyral pattern, Lissencephaly, Microlisse...	OMIM:616212
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Muscular dystrophy, Agyria, Hydr...	OMIM:614643
Joubert Syndrome	Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Situs inversus totalis, Polymicr...	ORPHA:475
Neu-Laxova Syndrome	Flexion contracture, Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida,...	ORPHA:2671
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventricular septal defect	OMIM:219730
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Desmosterolosis	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc...	ORPHA:35107
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Abnormal neuron morphology, Motor neuron atrophy, Spinocerebellar tract degeneration	ORPHA:412066
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog...	ORPHA:2211
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Short stature, Pallor	OMIM:609053
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
Leishmaniasis	Skin ulcer, Pallor	ORPHA:507
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Abnormality of neuronal migration, Rhabdomyolysis, Hydrocephalus, Myopathy, Pachy...	ORPHA:157
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly	OMIM:615219
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Abnormal heart morphology, Syringomyelia	ORPHA:531151
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia, Ventricular septal defect, Atrial septal defect	OMIM:618974
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Degeneration of anterior horn cells, Abnormal lower motor neuron mo...	ORPHA:276244
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Growth delay, Pallor	OMIM:600462
Beta-Thalassemia	Skin ulcer, Pallor	ORPHA:848
Dravet Syndrome	Pallor	ORPHA:33069
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Generalized amyotrophy	OMIM:601162
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	Abnormality of neuronal migration	ORPHA:2204
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Primary Myelofibrosis	Ecchymosis, Purpura, Petechiae, Pallor	ORPHA:824
Pagod Syndrome	Meningocele, Encephalocele, Abnormality of neuronal migration, Spina bifida, Hypoplastic left hea...	ORPHA:991
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Galloway-Mowat Syndrome	Camptodactyly of finger, Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria, Intr...	ORPHA:2065
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Pachygyria, Cardiomegaly, Abnor...	ORPHA:228308
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Abnormality of neuronal migration, Ventricular septal defect, Atrial sep...	ORPHA:261236
Myelofibrosis	Purpura, Pallor	OMIM:254450
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Pericardial effusion, Hydrocephalus, Camptodactyly, Lissencephaly, Arthr...	OMIM:617822
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Irida Syndrome	Pallor	ORPHA:209981
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Gray matter heterotopia, Ventricular septal ...	OMIM:619895
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Gray matter heterotopia, Camptodactyly	OMIM:619694
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele, Abnormality of neuronal migration	ORPHA:2318
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Amyotrophic Lateral Sclerosis 8	Proximal amyotrophy, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:608627
Cold Agglutinin Disease	Pallor	ORPHA:56425
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus, Atrial septal defect	ORPHA:1860
Periventricular Nodular Heterotopia	Periventricular heterotopia, Abnormal heart valve morphology	ORPHA:98892
Autoimmune Hemolytic Anemia	Pallor	ORPHA:98375
Fragile X Syndrome	Mitral valve prolapse, Periventricular heterotopia	OMIM:300624
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Glutathionuria	Gray matter heterotopia	OMIM:231950
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Neonatal death	OMIM:187600
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Holoprosencephaly	Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal defect, Abnormality of ne...	ORPHA:2162
Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Japanese Encephalitis	Paucity of anterior horn motor neurons, Elbow flexion contracture, Hyperintensity of MRI T2 signa...	ORPHA:79139
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor	ORPHA:98870
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Gray matter heterotopia, Branchial anomaly, Ventricular septal def...	ORPHA:453499
American Trypanosomiasis	Pallor	ORPHA:3386
Vocal Cord And Pharyngeal Distal Myopathy	Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal upper limb amyotroph...	ORPHA:600
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia, Distal arthrogryposis, Hydrocephalus, Intrauterine growth retardation	OMIM:619833
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Hydromyelia, Muscular dystrophy, Anencephaly, Hydrocephalus, Communicati...	OMIM:615287
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619133
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Tay-Sachs Disease	Pallor	OMIM:272800
Hereditary Spherocytosis	Skin ulcer, Growth delay, Pallor	ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Knee flexion contracture, Abnormality of neuronal migration, Elbow flexion contracture, Dilated c...	OMIM:608836
Dominant Beta-Thalassemia	Delayed puberty, Skin ulcer, Growth delay, Pallor	ORPHA:231226
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Rhabdomyolysis, Increased intramyocellular lipid droplets, Skeletal musc...	ORPHA:26791
Elliptocytosis 1	Pallor	OMIM:611804
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Beta-Thalassemia Intermedia	Skin ulcer, Pallor	ORPHA:231222
Idiopathic Camptocormia	Myelitis, Fatty replacement of skeletal muscle, Proximal spinal muscular atrophy, Syringomyelia, ...	ORPHA:1320
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Abnormal mitral valve morphology, Abnormal aortic valve morpho...	ORPHA:192
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Joint contracture of the hand, Agyria, Camptodactyly, Lissencephaly, Abn...	OMIM:247200
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent foramen ovale, Periventricular heterotopia, Ventricular septal defect, Atrial septal defec...	OMIM:618870
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Distal amyotrophy	OMIM:614298
Fumarase Deficiency	Pallor	OMIM:606812
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Letterer-Siwe Disease	Pallor	OMIM:246400
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Radio-Tartaglia Syndrome	Gray matter heterotopia, Ventricular septal defect	OMIM:619312
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Secundum atrial septal defect, Polymicrogyria	OMIM:617397
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Ventricular septal defect, Coronary artery fistula, Atrial septal defect...	OMIM:620024
Beta-Thalassemia Major	Delayed puberty, Skin ulcer, Growth delay, Pallor	ORPHA:231214
Rare Circulatory System Disease	Pallor	ORPHA:98028
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:1454
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Abnormality of neuronal migration	ORPHA:163681
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Vici Syndrome	Gray matter heterotopia, Cardiomyopathy	ORPHA:1493
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Multiple joint contractures, Joint contracture of the hand, Hydrocephalu...	OMIM:305450
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Intrauterine growth retardation	ORPHA:2518
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Waldenström Macroglobulinemia	Purpura, Pallor	ORPHA:33226
Ane Syndrome	Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy	ORPHA:157954
Hydrolethalus Syndrome 1	Gray matter heterotopia, Ventricular septal defect, Abnormal cortical gyration, Anencephaly, Arrh...	OMIM:236680
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	Holoprosencephaly, Overriding aorta, Tetralogy of Fallot, Abnormality of neuronal migration	ORPHA:3186
Prolactinoma	Delayed puberty, Pallor	ORPHA:2965
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Abnormality of neuronal migration	ORPHA:2063
Bohring-Opitz Syndrome	Gray matter heterotopia, Flexion contracture, Ventricular septal defect, Camptodactyly, Atrial se...	OMIM:605039
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Adenohypophysitis	Pallor	ORPHA:95512
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Periventricular heterotopia	OMIM:618929
Aregenerative Anemia	Pallor	ORPHA:101096
Incontinentia Pigmenti	Short stature, Erythema, Pallor	OMIM:308300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Knee flexion contracture, Periventricular heterotopia, Multiple joint co...	ORPHA:468631
Pituitary Apoplexy	Pallor	ORPHA:95613
Panhypophysitis	Pallor	ORPHA:95513
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Camptodactyly, Periventricular nodular heterot...	OMIM:601390
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Intrauterine growth retardation, Pachygyria	ORPHA:255138
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Koolen-De Vries Syndrome	Gray matter heterotopia, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the smal...	OMIM:610443
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Orofaciodigital Syndrome I	Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Abnormal he...	OMIM:311200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Fanconi Anemia, Complementation Group C	Anemic pallor, Intrauterine growth retardation, Short stature	OMIM:227645
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Periventricular heterotopia	OMIM:618476
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Short stature, Pallor	OMIM:105650
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Knee flexion contracture, Patent foramen ovale, Gray matter heterotopia, Flexion contracture, Hip...	OMIM:210710
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Growth delay	ORPHA:329971
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Cerebrofacioarticular Syndrome	Pulmonic stenosis, Gray matter heterotopia, Camptodactyly, Abnormal heart morphology	ORPHA:314679
Aicardi Syndrome	Spina bifida, Gray matter heterotopia, Pachygyria, Polymicrogyria	OMIM:304050
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Neonatal death, Polymicrogyria	OMIM:614887
Bilateral Perisylvian Polymicrogyria	Distal arthrogryposis, Flexion contracture, Abnormality of neuronal migration, Perisylvian predom...	ORPHA:98889
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Alg11-Cdg	Gray matter heterotopia, Limb hypertonia	ORPHA:280071
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Abnormal heart morphology	ORPHA:2754
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia	OMIM:603671
Peroxisome Biogenesis Disorder 1A (Zellweger)	Macroglossia, Gray matter heterotopia, Ventricular septal defect, Polymicrogyria	OMIM:214100
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration, Ventricular septal defect, Flexion contracture of finger, Ankl...	ORPHA:464311
Degcags Syndrome	Patent ductus arteriosus, Intrauterine growth retardation, Pallor	OMIM:619488
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature	OMIM:600901
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia, Bicuspid aortic valve, Hydrocephalus, Left ...	OMIM:612289
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Macroglossia, Polymicrogyria	OMIM:619775
Fanconi Anemia, Complementation Group A	Anemic pallor, Short stature	OMIM:227650
Vici Syndrome	Gray matter heterotopia, Left ventricular hypertrophy, Dilated cardiomyopathy, Atrial septal defe...	OMIM:242840
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Mac...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Mac...	ORPHA:352665
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Anemic pallor, Short stature	OMIM:227646
Idiopathic Hypereosinophilic Syndrome	Pallor	ORPHA:3260
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Pallor	ORPHA:91347
Histiocytoid Cardiomyopathy	Pallor	ORPHA:137675
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Orofaciodigital Syndrome Xiv	Ventricular septal defect, Periventricular heterotopia, Simplified gyral pattern, Atrial septal d...	OMIM:615948
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Wrist flexion contracture, Periventricular heterotopia, Calf muscle hyp...	OMIM:618733
Blackfan-Diamond Anemia	Growth delay, Short stature, Pallor	ORPHA:124
Van Maldergem Syndrome 2	Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular 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
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Arima Syndrome	Gray matter heterotopia, Occipital meningocele	OMIM:243910
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Holoprosencephaly, Polymicrogyria	OMIM:618820
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Gray matter heterotopia, Abnormality of neuronal migration, Polymicr...	ORPHA:75857
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Periventricular heterotopia, Hydrocephalus, Atrial septal defect, Hype...	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
Visceral Steatosis, Congenital	Neonatal death, Myocardial steatosis	OMIM:228100
Goodpasture Syndrome	Pallor	OMIM:233450
Proteus Syndrome	Myofibrillar myopathy, Gray matter heterotopia, Decreased muscle mass, Sirenomelia	ORPHA:744
Genitopatellar Syndrome	Knee flexion contracture, Hip contracture, Periventricular heterotopia, Ventricular septal defect...	OMIM:606170
Congenital Total Pulmonary Venous Return Anomaly	Patent ductus arteriosus, Pallor	ORPHA:99125
Orofaciodigital Syndrome Type 14	Periventricular heterotopia, Ventricular septal defect	ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Flexion contracture, Periventricular heterotopia, Bicuspid aortic valve, Camptodactyly, Abnormal ...	ORPHA:261537
Mowat-Wilson Syndrome	Flexion contracture, Periventricular heterotopia, Abnormal cardiac septum morphology, Bicuspid ao...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Ventricular septal defect, Periventricular heterotopia, Bicuspid aortic valv...	ORPHA:261552
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)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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