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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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
Pak4tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pak4tm402304(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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