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, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Agyria, Intrauterine growth retardation, Subcortical band he... OMIM:615411
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Simplifie... OMIM:604317
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia OMIM:600348
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Agyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:615412
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration OMIM:618709
Chudley-Mccullough Syndrome
Polymicrogyria, Hydrocephalus, Gray matter heterotopia OMIM:604213
Retinitis Pigmentosa 42
Pallor OMIM:612943
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Paucity of anterior h... OMIM:611890
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 60
Pallor OMIM:613983
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Flexion contracture, Gray matter heterotopia OMIM:617201
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ge... ORPHA:52430
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly OMIM:611603
Optic Atrophy 9
Pallor OMIM:616289
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Lissencephaly, Gray matter heterotopia OMIM:300067
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Peripheral Cone Dystrophy
Pallor OMIM:609021
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Chiari Malformation Type Ii
Spina bifida, Gray matter heterotopia, Cervical myelopathy, Syringomyelia, Myelomeningocele, Limb... OMIM:207950
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616437
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Myelomen... ORPHA:101030
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Hypop... OMIM:253310
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Pachygyria, Gray matter heterotopia, Proximal amyotrophy, Congenita... ORPHA:370980
Lissencephaly 5
Type II lissencephaly, Subcortical band heterotopia, Hydrocephalus, Gray matter heterotopia OMIM:615191
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of neuronal migration ORPHA:1980
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly OMIM:618677
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Pachygyria, Congenital muscular dystrophy, Muscular d... OMIM:608840
Optic Atrophy 1
Pallor OMIM:165500
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Hemimegalencephaly
Abnormal neuron morphology, Polymicrogyria, Pachygyria, Gray matter heterotopia ORPHA:99802
Retinitis Pigmentosa 70
Pallor OMIM:615922
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:105550
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Abnormality of neuronal migration ORPHA:2216
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Generalized amyotrophy, Abnormal lower motor neuron morph... ORPHA:275872
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Retinitis Pigmentosa 27
Pallor OMIM:613750
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Breath-Holding Spells
Pallor OMIM:607578
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology ORPHA:2590
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Retinitis Pigmentosa 73
Pallor OMIM:616544
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Abnormality o... ORPHA:2772
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormal lower motor neuron morphology ORPHA:93941
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Atrial septal defect, Hydrocephalus, Abnormality of neuronal migration ORPHA:93274
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Abnormality of neuronal migration, Intrauterine growt... ORPHA:89844
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia, Abnormality of neuronal migration ORPHA:2481
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Thanatophoric Dysplasia
Intrauterine growth retardation, Atrial septal defect, Hydrocephalus, Gray matter heterotopia ORPHA:2655
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Type II lissencephaly, Gray matter heterotopia, Congenital muscular dystrophy, Skel... ORPHA:370959
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Short stature ORPHA:49827
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
3C Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal mi... ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Muscular dystrophy, Anencephaly, Hydrocephalus OMIM:615287
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:105400
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology OMIM:607694
Walker-Warburg Syndrome
Pachygyria, Muscular dystrophy, Abnormality of neuronal migration, Aplasia/Hypoplasia involving t... ORPHA:899
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Neu-Laxova Syndrome
Spina bifida, Arthrogryposis multiplex congenita, Pachygyria, Muscular dystrophy, Flexion contrac... ORPHA:2671
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus, Gray matter heterotopia OMIM:219730
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor OMIM:600462
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Polymicrogyria Due To Tubb2B Mutation
Pachygyria, Gray matter heterotopia, Polymicrogyria, Perisylvian polymicrogyria, Lissencephaly ORPHA:300573
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Polymicrogyria, Limb hypertonia, Simplified gyral patter... OMIM:616212
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Gray matter heterotopia OMIM:187600
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Abnormality of neuronal migration, Polymicrogyria,... ORPHA:35107
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Joubert Syndrome
Polymicrogyria, Situs inversus totalis, Hydrocephalus, Abnormality of neuronal migration ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Muscular dystrophy, Subcortical heter... OMIM:614643
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Generalized amyotrophy, Lower limb muscle weakness OMIM:601162
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Rhabdomyolysis, Abnormality of neuronal migration, Polymicrogyria, Myopathy, Hydrocep... ORPHA:157
9Q21.13 Microdeletion Syndrome
Syringomyelia, Abnormal heart morphology, Gray matter heterotopia ORPHA:531151
Mental Retardation, Autosomal Dominant 13
Pachygyria, Abnormality of neuronal migration OMIM:614563
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyr... ORPHA:2211
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly, Gray matter heterotopia OMIM:615219
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Short stature OMIM:609053
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Periventricular heterotopia OMIM:618974
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Abno... ORPHA:261236
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Gray matter heterotopia, Pericardial effusion, Camptodactyly,... OMIM:617822
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Machado-Joseph Disease Type 3
Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Degeneration of anter... ORPHA:276244
Galloway-Mowat Syndrome
Camptodactyly of finger, Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration, Intr... ORPHA:2065
Retinitis Pigmentosa 51
Pallor OMIM:613464
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Cardiomegaly, Abnormal myocardium ... ORPHA:228308
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormality of neuronal migration, Meningocele, Hypoplastic... ORPHA:991
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Dravet Syndrome
Pallor ORPHA:33069
Myelofibrosis
Pallor, Purpura OMIM:254450
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Fragile X Syndrome
Mitral valve prolapse, Periventricular heterotopia OMIM:300624
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Periventricular heterotopia ORPHA:98892
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Thanatophoric Dysplasia Type 1
Atrial septal defect, Hydrocephalus, Gray matter heterotopia ORPHA:1860
Irida Syndrome
Pallor ORPHA:209981
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:608627
Cold Agglutinin Disease
Pallor ORPHA:56425
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased muscle lipid content, Abnormality of neuronal migration, Polymicrogyria, Cardiomegaly, ... OMIM:608836
Holoprosencephaly
Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Spinal cord t... ORPHA:2162
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Atrial septal defect, Branchial anomaly, Gray matter heterotopia, Abnormal heart mo... ORPHA:453499
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Myopathy, Mitochondrial, And Ataxia
Growth delay, Pallor, Short stature OMIM:617675
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy ORPHA:803
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Orofaciodigital Syndrome I
Abnormal heart morphology, Gray matter heterotopia, Abnormal cortical gyration, Myelomeningocele,... OMIM:311200
Senior-Loken Syndrome 8
Pallor OMIM:616307
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
American Trypanosomiasis
Pallor ORPHA:3386
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons, Dista... ORPHA:79139
Cach Syndrome
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Dysgyria, Flexion contracture ORPHA:135
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature ORPHA:98870
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Periventricular heterotopia OMIM:618476
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Amyotrophic lateral scleros... ORPHA:600
Hereditary Spherocytosis
Growth delay, Pallor, Skin ulcer ORPHA:822
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Increased intramyocellular lipid droplets, Abnormal heart morphology, Gray matt... ORPHA:26791
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Tay-Sachs Disease
Pallor OMIM:272800
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Dominant Beta-Thalassemia
Delayed puberty, Pallor, Skin ulcer, Growth delay ORPHA:231226
Elliptocytosis 1
Pallor OMIM:611804
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Miller-Dieker Lissencephaly Syndrome
Pachygyria, Gray matter heterotopia, Abnormal heart morphology, Camptodactyly, Agyria, Joint cont... OMIM:247200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Abnormal lower motor neuron morphology, Distal amyotrophy OMIM:614298
Lissencephaly Due To Lis1 Mutation
Pachygyria, Anterior predominant thick cortex pachygyria, Dysgyria, Agyria, Posterior predominant... ORPHA:95232
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Holoprosencephaly, Tetralogy of Fallot, Abnormality of neuronal migration ORPHA:3186
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Fumarase Deficiency
Pallor OMIM:606812
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth, Gray matter heterotopia, Ventricular septal defect, Arrhin... OMIM:236680
Opitz-Kaveggia Syndrome
Abnormal heart morphology, Gray matter heterotopia, Camptodactyly, Umbilical hernia, Multiple joi... OMIM:305450
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation, Abnormality of neuronal migration ORPHA:2518
Radio-Tartaglia Syndrome
Ventricular septal defect, Gray matter heterotopia OMIM:619312
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Vici Syndrome
Cardiomyopathy, Gray matter heterotopia ORPHA:1493
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Beta-Thalassemia Major
Delayed puberty, Pallor, Skin ulcer, Growth delay ORPHA:231214
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Gray matter heterotopia, Camptodactyly, Flexion ... OMIM:605039
Sepsis In Premature Infants
Petechiae, Pallor, Purpura ORPHA:90051
Letterer-Siwe Disease
Pallor OMIM:246400
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Abnormality of neuronal migration ORPHA:2063
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Scapular winging, Ventricular septal defect, Periventricular heterotopia, P... OMIM:618870
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Childhood Absence Epilepsy
Pallor ORPHA:64280
Rare Circulatory System Disease
Pallor ORPHA:98028
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Pachygyria, Periventricular heterotopia, Ankle flexion contracture, Poly... ORPHA:468631
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Vici Syndrome
Gray matter heterotopia, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Cardiomy... OMIM:242840
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation, Pachygyria, Periventricular heterotopia ORPHA:255138
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Ane Syndrome
Generalized amyotrophy, Motor neuron atrophy, Multiple joint contractures ORPHA:157954
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Periventricular heterotopia OMIM:618929
Incontinentia Pigmenti
Pallor, Short stature, Erythema OMIM:308300
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Aregenerative Anemia
Pallor ORPHA:101096
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Adenohypophysitis
Pallor ORPHA:95512
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopi... OMIM:601390
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Aicardi Syndrome
Spina bifida, Pachygyria, Polymicrogyria, Gray matter heterotopia OMIM:304050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Panhypophysitis
Pallor ORPHA:95513
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Gray matter heterotopia, Hypotrophy of the small... OMIM:610443
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Bilateral Perisylvian Polymicrogyria
Flexion contracture, Abnormality of masticatory muscle, Abnormality of neuronal migration, Limb h... ORPHA:98889
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Camptodactyly, Abnormal heart morphology, Gray matter heterotopia ORPHA:314679
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor, Short stature OMIM:227645
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Periventricular heterotopia ORPHA:261250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Polymicrogyria, Macroglossia, Gray matter heterotopia OMIM:214100
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Ventricular septal defect, Abnormality of neuronal migration, Aort... ORPHA:464311
Diamond-Blackfan Anemia 1
Intrauterine growth retardation, Pallor, Short stature OMIM:105650
Fontaine Progeroid Syndrome
Atrial septal defect, Gray matter heterotopia, Periventricular heterotopia, Abnormal heart morpho... OMIM:612289
Paroxysmal Nocturnal Hemoglobinuria
Pallor ORPHA:447
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Alg11-Cdg
Limb hypertonia, Gray matter heterotopia ORPHA:280071
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Type 1 muscle fiber atrophy, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal hear... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Type 1 muscle fiber atrophy, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal hear... ORPHA:352665
Orofaciodigital Syndrome Type 6
Abnormal heart morphology, Abnormality of neuronal migration ORPHA:2754
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Subcortical band heterotopia, Gray matter heterotopia OMIM:615546
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature OMIM:600901
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Atrioventricular canal defect OMIM:619135
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Abnormality of neuronal migration ORPHA:1454
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature OMIM:227650
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Short stature OMIM:227646
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
Superficial Siderosis
Dysgyria, Atrophy of the spinal cord, Lower limb muscle weakness, Abnormality of the spinal cord ORPHA:247245
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect, Periventricular heterotopia, Holoprosencephaly, ... OMIM:615948
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Periventricular heterotopia, Wrist flexion contracture, Knee flexio... OMIM:618733
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Atrial septal defect, Pachygyria, Stillbirth, Gray matter heterotopia, Flexion contracture, Knee ... OMIM:210710
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Blackfan-Diamond Anemia
Growth delay, Pallor, Short stature ORPHA:124
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Polymicrogyria, Gray matter heterotopia OMIM:618820
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Periventricular heterotopia, Ventricular septal defect, Holoprosencephaly, ... OMIM:270400
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Polymicrogyria, Gray matter heterotopia, Periventricular heter... ORPHA:75857
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Pallor ORPHA:667
Von Hippel-Lindau Disease
Pallor ORPHA:892
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Skeletal muscle atrophy, Abnormality of neuronal migration ORPHA:647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia OMIM:618918
Mismatch Repair Cancer Syndrome 1
Rhabdomyosarcoma, Gray matter heterotopia OMIM:276300
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Proteus Syndrome
Myofibrillar myopathy, Sirenomelia, Decreased muscle mass, Gray matter heterotopia ORPHA:744
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Periventricular heterotopia, Knee flexion contra... OMIM:606170
Goodpasture Syndrome
Pallor OMIM:233450
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Periventricular heterotopia ORPHA:434179
Congenital Total Pulmonary Venous Return Anomaly
Pallor, Patent ductus arteriosus ORPHA:99125
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal heart morphology, Periventricular heterotopia, Camptodactyly, Flexion contracture, Abnor... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal heart morphology, Periventricular heterotopia, Ventricular septal defect, Camptodactyly,... ORPHA:261552
Mowat-Wilson Syndrome
Periventricular heterotopia, Abnormal heart morphology, Camptodactyly, Flexion contracture, Pulmo... ORPHA:2152
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Myocardial steatosis, Tendon xanthomatosis ORPHA:391665

Histopathology

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

There is no histopathology data for Pak4

IMPC related publications

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

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

MGI Allele Allele Type Produced
Pak4tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pak4tm402304(L1L2_Bact_P) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter