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
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... OMIM:615411
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Hydrocephalus OMIM:618709
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Polymicrogyria OMIM:604213
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Retinitis Pigmentosa 42
Pallor OMIM:612943
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly, Occipital encephalocele ORPHA:352682
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn c... OMIM:611890
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 60
Pallor OMIM:613983
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia, Flexion contracture OMIM:617201
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variabili... ORPHA:52430
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria OMIM:611603
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Men... ORPHA:101030
Optic Atrophy 9
Pallor OMIM:616289
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Lissencephaly, X-Linked, 1
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Lissencephaly 5
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Subcortical band heterotopia, Occi... OMIM:615191
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616437
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... ORPHA:1145
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Limb muscle weakness, Syringomyelia, Sp... OMIM:207950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:602099
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp... OMIM:253310
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Gray matter heterotopia, EMG: myopathic... ORPHA:370980
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:1980
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Rimmed vacuoles, Increased variability in mu... OMIM:606070
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Retinitis Pigmentosa 70
Pallor OMIM:615922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Pachygyria, EMG: myopat... OMIM:608840
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... OMIM:602433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:105550
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness ORPHA:2590
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot... ORPHA:275872
Retinitis Pigmentosa 27
Pallor OMIM:613750
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:2216
Breath-Holding Spells
Pallor OMIM:607578
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Abnormality of neuronal migration, Enceph... ORPHA:93274
Retinitis Pigmentosa 73
Pallor OMIM:616544
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology ORPHA:93941
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Abnormality of neuronal migration, Intrauterine growth retardation, Hy... ORPHA:2772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Muscular dystrophy, Anencephaly, Type II lissencephaly, O... OMIM:615287
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Gray matter heterotopia, Hypoglycosylatio... ORPHA:370959
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, 4-layered lissencephaly, Patent foramen ovale, Abnormality of neuronal migr... ORPHA:89844
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Retrocollis, Hand muscle atrophy, Spasticity of facial muscles, Di... OMIM:205100
Hemoglobin D Disease
Pallor ORPHA:90039
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Cyclic Vomiting Syndrome
Pallor, Growth delay OMIM:500007
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Growth delay, Short stature OMIM:615631
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Short stature ORPHA:49827
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Syringomyelia, Meningocele ORPHA:2481
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Skeletal muscle atrophy OMIM:105400
Thanatophoric Dysplasia
Intrauterine growth retardation, Hydrocephalus, Gray matter heterotopia, Atrial septal defect ORPHA:2655
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... ORPHA:7
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia OMIM:300049
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Walker-Warburg Syndrome
Hydrocephalus, Muscular dystrophy, Polymicrogyria, Abnormal cortical gyration, Aplasia/Hypoplasia... ORPHA:899
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Pachygyria, Muscular dystrophy, Polymicrogyria, Type II l... OMIM:614643
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Joubert Syndrome
Hydrocephalus, Polymicrogyria, Situs inversus totalis, Abnormality of neuronal migration, Encepha... ORPHA:475
Neu-Laxova Syndrome
Intrauterine growth retardation, Flexion contracture, Muscular dystrophy, Polymicrogyria, Abnorma... ORPHA:2671
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus, Gray matter heterotopia OMIM:219730
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty OMIM:600462
Spastic Paraplegia 9A, Autosomal Dominant
Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness OMIM:601162
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Limb hypertonia, Polymicrogyria, Lissencephaly, Simplified gyral pat... OMIM:616212
Desmosterolosis
Hydrocephalus, Anomalous pulmonary venous return, Polymicrogyria, Abnormal cortical gyration, Lis... ORPHA:35107
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Pachygyria, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality... ORPHA:2211
Retinitis Pigmentosa 51
Pallor OMIM:613464
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Encephalocele, Gray matter heterotopia OMIM:603671
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
9Q21.13 Microdeletion Syndrome
Syringomyelia, Gray matter heterotopia, Abnormal heart morphology ORPHA:531151
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Polymicrogyria, Rhabdomyolysis, Abnormality of neuronal migration, Pachygyria, Car... ORPHA:157
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Periventricular heterotopia, Atrial septal defect OMIM:618974
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation, Short stature OMIM:609053
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly OMIM:615219
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Beta-Thalassemia
Skin ulcer, Pallor ORPHA:848
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria ORPHA:300573
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Spinocerebellar trac... ORPHA:276244
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Camptodactyly, Lissencephaly, Arthrogryposis multiplex co... OMIM:617822
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Intrauterine growth retardation OMIM:266200
Pagod Syndrome
Congenital diaphragmatic hernia, Hypoplastic left heart, Situs inversus totalis, Meningocele, Abn... ORPHA:991
Dravet Syndrome
Pallor ORPHA:33069
16P13.11 Microdeletion Syndrome
Atrial septal defect, Holoprosencephaly, Camptodactyly of finger, Ventricular septal defect, Abno... ORPHA:261236
Galloway-Mowat Syndrome
Aqueductal stenosis, Camptodactyly of finger, Abnormality of neuronal migration, Pachygyria, Intr... ORPHA:2065
Primary Myelofibrosis
Pallor, Purpura, Ecchymosis, Petechiae ORPHA:824
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Polymicrogyria, Abnormal myocardium morphology, Abnormality of neuronal migration,... ORPHA:228308
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Knee flexion contracture, Camptodactyly OMIM:619694
Myelofibrosis
Pallor, Purpura OMIM:254450
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Holoprosencephaly 14
Double outlet right ventricle, Hydrocephalus, Periventricular heterotopia, Alobar holoprosencepha... OMIM:619895
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Hydrocephalus, Encephalocele ORPHA:2318
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy OMIM:608627
Irida Syndrome
Pallor ORPHA:209981
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Periventricular heterotopia ORPHA:98892
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Cold Agglutinin Disease
Pallor ORPHA:56425
Thanatophoric Dysplasia Type 1
Hydrocephalus, Gray matter heterotopia, Atrial septal defect ORPHA:1860
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Fragile X Syndrome
Mitral valve prolapse, Periventricular heterotopia OMIM:300624
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Retinitis Pigmentosa 75
Pallor OMIM:617023
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosence... ORPHA:2162
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia, Neonatal death OMIM:187600
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Atrioventricu... ORPHA:453499
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons, Elbow... ORPHA:79139
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature ORPHA:98870
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy ORPHA:803
American Trypanosomiasis
Pallor ORPHA:3386
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Distal arthrogryposis, Hydrocephalus, Intrauterine growth retardation, Periventricular heterotopia OMIM:619833
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Increased muscle lipid content, Dilated cardiomyopathy, Elbow flexion contracture... OMIM:608836
Hereditary Spherocytosis
Skin ulcer, Growth delay, Pallor ORPHA:822
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia OMIM:618476
Elliptocytosis 1
Pallor OMIM:611804
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Dominant Beta-Thalassemia
Skin ulcer, Growth delay, Pallor, Delayed puberty ORPHA:231226
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Joint contracture of the hand, Camptodactyly, Agyria, Lissencephaly, Pac... OMIM:247200
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Increased intramyocellular lipid droplets, Rhabdomyolysis, Scapular wing... ORPHA:26791
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Abnormality of neuronal migra... ORPHA:192
Senior-Loken Syndrome 8
Pallor OMIM:616307
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Atrial septal defect, Ventricular septal defect, Patent foramen oval... OMIM:618870
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Atrial septal defect, Neonatal death, Ventricular septal defect, Frontal... OMIM:620024
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, EMG: myopathic abnormalities, Myelitis, Abnormal muscle fiber dysf... ORPHA:1320
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Gray matter heterotopia, Anencephaly, Arrhinencephaly, Severe hy... OMIM:236680
Fumarase Deficiency
Pallor OMIM:606812
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Radio-Tartaglia Syndrome
Ventricular septal defect, Gray matter heterotopia OMIM:619312
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Secundum atrial septal defect, Polymicrogyria OMIM:617397
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Distal amyotrophy OMIM:614298
Sepsis In Premature Infants
Pallor, Purpura, Petechiae ORPHA:90051
Childhood Absence Epilepsy
Pallor ORPHA:64280
Opitz-Kaveggia Syndrome
Multiple joint contractures, Hydrocephalus, Gray matter heterotopia, Joint contracture of the han... OMIM:305450
Letterer-Siwe Disease
Pallor OMIM:246400
Vici Syndrome
Gray matter heterotopia, Cardiomyopathy ORPHA:1493
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation ORPHA:2518
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hydrocephalus, Occipital encephalocele ORPHA:1454
Beta-Thalassemia Major
Skin ulcer, Growth delay, Pallor, Delayed puberty ORPHA:231214
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Rare Circulatory System Disease
Pallor ORPHA:98028
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Abnormal cortical gyration, Abnormal he... OMIM:311200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Overriding aorta, Tetralogy of Fallot, Holoprosencephaly ORPHA:3186
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joi... ORPHA:300605
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Congenital diaphragmatic hernia ORPHA:2063
Bohring-Opitz Syndrome
Gray matter heterotopia, Atrial septal defect, Flexion contracture, Camptodactyly, Ventricular se... OMIM:605039
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Periventricular heterotopia, Intrauterine growth retardation, Pachyg... ORPHA:468631
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Periventricular heterotopia, Atrioventricular canal defect OMIM:618929
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Intrauterine growth retardation, Pachygyria ORPHA:255138
Vici Syndrome
Gray matter heterotopia, Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, My... OMIM:242840
Aregenerative Anemia
Pallor ORPHA:101096
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Koolen-De Vries Syndrome
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Pulmonic stenosis, Ventricu... OMIM:610443
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Adenohypophysitis
Pallor ORPHA:95512
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Incontinentia Pigmenti
Pallor, Erythema, Short stature OMIM:308300
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Panhypophysitis
Pallor ORPHA:95513
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Spina bifida, Polymicrogyria OMIM:304050
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Bilateral Perisylvian Polymicrogyria
Facial diplegia, Bilateral perisylvian polymicrogyria, Flexion contracture, Weakness of facial mu... ORPHA:98889
Fanconi Anemia, Complementation Group C
Anemic pallor, Intrauterine growth retardation, Short stature OMIM:227645
Arima Syndrome
Occipital meningocele, Gray matter heterotopia OMIM:243910
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Gray matter heterotopia, Camptodactyly, Abnormal heart morphology ORPHA:314679
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Periventricular heterotopia, Dilated cardiomyopathy ORPHA:261250
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor ORPHA:329971
Diamond-Blackfan Anemia 1
Pallor, Intrauterine growth retardation, Short stature OMIM:105650
Alg11-Cdg
Limb hypertonia, Gray matter heterotopia ORPHA:280071
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Aortic valve stenosis, Ventricular septal defect, Abnormality of n... ORPHA:464311
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Gray matter heterotopia, Polymicrogyria, Macroglossia OMIM:214100
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Abnormal heart morphology ORPHA:2754
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Atrial septal defect, Holoprosencephaly, Polymicrogyria, Ventricular... OMIM:615948
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Hydrocephalus, Atrial septal defect, Gray matter heterotopia, Periventricu... OMIM:612289
Degcags Syndrome
Pallor, Patent ductus arteriosus, Intrauterine growth retardation OMIM:619488
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Type 1 muscle... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Gray matter heterotopia, Atrial septal defect, Macroglossia, Type 1 muscle... ORPHA:352665
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Macroglossia OMIM:619775
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature OMIM:600901
Esophageal Atresia
Pallor, Growth delay ORPHA:1199
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature OMIM:227650
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Intrauterine growth retardation, Gray matter heterotopia, Atrial septal defect, ... OMIM:210710
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Short stature OMIM:227646
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Periventricular heterotopia, EMG: myopathic abnormalities, Calf muscle hyp... OMIM:618733
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Tsh-Secreting Pituitary Adenoma
Pallor, Delayed puberty ORPHA:91347
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Blackfan-Diamond Anemia
Pallor, Growth delay, Short stature ORPHA:124
Autosomal Recessive Malignant Osteopetrosis
Pallor, Growth delay ORPHA:667
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly OMIM:618820
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Periventricular heterotopia, Gray matter heterotopia, Polymicr... ORPHA:75857
Von Hippel-Lindau Disease
Pallor ORPHA:892
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Periventricular heterotopia, Atrial septal defect, Holoprosencephaly, Ventricular ... OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Skeletal muscle atrophy, Abnormality of neuronal migration ORPHA:647
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Rhabdomyosarcoma OMIM:276300
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Proteus Syndrome
Gray matter heterotopia, Myofibrillar myopathy, Decreased muscle mass, Sirenomelia ORPHA:744
Goodpasture Syndrome
Pallor OMIM:233450
Genitopatellar Syndrome
Hip contracture, Periventricular heterotopia, Atrial septal defect, Ventricular septal defect, Kn... OMIM:606170
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Periventricular heterotopia ORPHA:434179
Congenital Total Pulmonary Venous Return Anomaly
Pallor, Patent ductus arteriosus ORPHA:99125
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v... ORPHA:261552
Mowat-Wilson Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic va... ORPHA:2152
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pak4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pak4.

No publications found that use IMPC mice or data for Pak4.

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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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