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
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Lissencephaly 3
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... OMIM:611603
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... OMIM:604317
Band Heterotopia
Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia OMIM:600348
Lissencephaly 1
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:607432
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Dysplastic corpus callosum, Pol... OMIM:604213
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Microlissencephaly
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:1083
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Latera... ORPHA:300573
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:2512
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Lissencepha... OMIM:616212
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Subependymal Nodular Heterotopia
Partial agenesis of the corpus callosum, Gray matter heterotopia, Abnormality of neuronal migrati... ORPHA:101030
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly OMIM:615219
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Walker-Warburg Syndrome
Macrogyria, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal mi... ORPHA:899
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of corpus callosum OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum OMIM:615287
Acalvaria
Abnormality of neuronal migration ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Agyria, Type II... OMIM:614643
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618476
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:255138
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal neuron morphology, Mental deterioration, Abnormality of neuronal migration, Progressive ... ORPHA:163681
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Desmosterolosis
Macrogyria, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal mi... ORPHA:35107
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria ORPHA:370959
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria, Hypothalamic ha... OMIM:619775
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Cognitive impairment ORPHA:2065
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymicrogyria ORPHA:157
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Interhypothalamic Adhesion, Agenesis of corpus callosum OMIM:618929
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2211
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymicrogyria ORPHA:228308
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Colpocephaly OMIM:619833
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... ORPHA:2671
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
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Joubert Syndrome
Abnormality of neuronal migration, Polymicrogyria ORPHA:475
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal mig... ORPHA:75857
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum ORPHA:314679
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia OMIM:615546
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
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
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly OMIM:247200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... ORPHA:468631
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Orofaciodigital Syndrome I
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha... OMIM:311200
Aicardi Syndrome
Partial agenesis of the corpus callosum, Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of co... OMIM:618820
Holoprosencephaly 14
Partial agenesis of the corpus callosum, Periventricular heterotopia, Gray matter heterotopia OMIM:619895
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:305450
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Pachygyria, Gray matter heterotopia OMIM:620024
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Holoprosencephaly
Abnormality of neuronal migration, Cognitive impairment ORPHA:2162
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria OMIM:618918
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Mental deterioration ORPHA:647
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
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
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum OMIM:210710
Hydrolethalus Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration OMIM:236680
Arima Syndrome
Gray matter heterotopia OMIM:243910
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Periventricular heterotopia, Colpocephaly OMIM:270400
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Genitopatellar Syndrome
Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Periventricular heterotopia, Agenesis of corpus callosum, Polymicro... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Periventricular heterotopia, Agenesis of corpus callosum, Polymicro... ORPHA:261552
Mowat-Wilson Syndrome
Periventricular heterotopia, Agenesis of corpus callosum, Polymicrogyria 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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