Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phosphoinositide-3-kinase regulatory subunit 4
Synonyms:
Vps15,  p150

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 Pik3r4 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 Pik3r4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc... OMIM:611603
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter ... OMIM:604213
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Cognitive impairment, Attention deficit hyperactivity di... ORPHA:300573
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventricle dilatatio... OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Abnormality of neuronal migration OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria ORPHA:99802
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia, Partial agenesis of the corpus callosum OMIM:616171
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray ... ORPHA:101030
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Joubert Syndrome 30
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Acalvaria
Abnormality of neuronal migration ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Subcortical heterotopia, ... OMIM:614643
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus... ORPHA:899
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Cntnap2-Related Developmental And Epileptic Encephalopathy
Progressive language deterioration, Abnormality of neuronal migration, Abnormal neuron morphology... ORPHA:163681
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lis... OMIM:615219
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:370959
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia, Interhypothalamic adhesion... OMIM:618929
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus... ORPHA:35107
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Hypothalamic hamartoma, Partial agenesis of the corpus callosum, Gray matter hete... OMIM:619775
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Radio-Tartaglia Syndrome
Attention deficit hyperactivity disorder, Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Cognitive impairment ORPHA:2065
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:157
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Periventricular heterotopia, Agenesis of corpus callosum, Cognitive impairment OMIM:618476
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Colpocephaly OMIM:619833
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:228308
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periven... ORPHA:75857
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:614887
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colpocephaly, Agenesis of co... OMIM:618820
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Opitz-Kaveggia Syndrome
Attention deficit hyperactivity disorder, Partial agenesis of the corpus callosum, Gray matter he... OMIM:305450
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:247200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Simplified gyral pattern, Pachygyria, Agenesis of corpus callosum, Lissencephaly,... ORPHA:468631
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Aicardi Syndrome
Polymicrogyria, Gray matter heterotopia, Pachygyria, Lateral ventricle dilatation, Partial agenes... OMIM:304050
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615546
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Periventricular Nodular Heterotopia 9
Attention deficit hyperactivity disorder, Polymicrogyria, Periventricular nodular heterotopia, Gr... OMIM:618918
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
Holoprosencephaly 14
Periventricular heterotopia, Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:619895
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Abnormal cortical gyration, Agenesis of corpus callosum, Gray matter hete... OMIM:311200
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Polymicrogyria, Microlissencephaly, Gray matter heterotopia, Colpocep... OMIM:210710
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:214100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:620024
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Abnormality of neuronal migration ORPHA:464311
Holoprosencephaly
Abnormality of neuronal migration, Cognitive impairment ORPHA:2162
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Mental deterioration ORPHA:647
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of corpus callosum OMIM:603671
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:352665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum OMIM:615287
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia, Agenesis of corpus callosum OMIM:236680
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Polymicrogyria, Periventricular heterotopia, Partial agenesis of the co... OMIM:615948
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Colpocephaly, Partial agenesis of the corpus callosum OMIM:270400
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Arima Syndrome
Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Partial agenesis of the corpus callosum ORPHA:434179
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... ORPHA:261552
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:2152

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 Pik3r4

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 Pik3r4.

No publications found that use IMPC mice or data for Pik3r4.

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