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Gene: Pik3r4 MGI:1922919

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... ORPHA:101029
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Chudley-Mccullough Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Pol... OMIM:604213
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... 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
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Band Heterotopia
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... OMIM:600348
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Cognitive impairment ORPHA:1314
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M... OMIM:616212
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology ORPHA:99802
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Subependymal Nodular Heterotopia
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... ORPHA:101030
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder OMIM:620065
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis... ORPHA:89844
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment OMIM:617008
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria 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
Pachygyria, Abnormality of neuronal migration OMIM:608840
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Acalvaria
Abnormality of neuronal migration ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... OMIM:614643
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia ORPHA:255138
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Progressive language deterioration, Abnormal neuron morphology, Abnormality... ORPHA:163681
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum, Type II lissencephaly ORPHA:370959
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu... OMIM:615219
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Attention deficit hyperactivity disorder... OMIM:618929
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Hypothalamic ha... OMIM:619775
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Attention deficit hyperactivity disorder OMIM:619312
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration, Cognitive impairment ORPHA:2065
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:157
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Agenesis of corpus callosum, Cognitive impairment, Periventricular heterotopia OMIM:618476
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Periventricular heterotopia OMIM:619833
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:228308
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
3C Syndrome
Abnormality of neuronal migration ORPHA:7
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... ORPHA:75857
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum ORPHA:314679
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Attention deficit hyperactivit... OMIM:618820
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum OMIM:603671
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Attention deficit hyperactivity... 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
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria,... ORPHA:468631
Aicardi Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Lateral ventricle dilatation, P... OMIM:304050
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Attention deficit h... OMIM:618918
Holoprosencephaly 14
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia OMIM:619895
Orofaciodigital Syndrome I
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha... OMIM:311200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Progressive neurologic deterioration, Partial agenesis of the corpus ... OMIM:210710
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Holoprosencephaly
Abnormality of neuronal migration, Cognitive impairment ORPHA:2162
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:464311
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly OMIM:615287
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
Hydrolethalus Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration OMIM:236680
Orofaciodigital Syndrome Xiv
Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula... OMIM:615948
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Colpocephaly, Periventricular heterotopia OMIM:270400
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Arima Syndrome
Gray matter heterotopia OMIM:243910
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia OMIM:606170
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Periventricular hetero... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Periventricular hetero... ORPHA:261552
Mowat-Wilson Syndrome
Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia 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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