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Gene: Dgcr8 MGI:2151114

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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:
DGCR8, microprocessor complex subunit
Synonyms:
D16H22S1742E,  DiGeorge syndrome critical region gene 8,  Vo59c07,  D16Wis2,  N41,  D16H22S788E,  Gy1

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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 Dgcr8 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 Dgcr8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lissencephaly 1
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
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
Lissencephaly 3
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc... OMIM:611603
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... ORPHA:1083
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter ... OMIM:604213
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Childhood Disintegrative Disorder
Abnormal emotion, Mental deterioration, Progressive language deterioration, Reduced social recipr... ORPHA:168782
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventricle dilatatio... OMIM:600348
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... OMIM:604317
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Agenesis of corpus callosum,... ORPHA:300573
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
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Hemimegalencephaly
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria ORPHA:99802
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray ... ORPHA:101030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia, Partial agenesis of the corpus callosum OMIM:616171
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
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
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
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Dementia ORPHA:1020
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heterotopia, Subcortical heterotopia, ... OMIM:614643
Periventricular Nodular Heterotopia 7
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus... ORPHA:899
Childhood Absence Epilepsy
Depression, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lis... OMIM:615219
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:370959
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus... ORPHA:35107
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation OMIM:617397
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Hypothalamic hamartoma, Partial agenesis of the corpus callosum, Gray matter hete... OMIM:619775
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:157
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Abnormal neuron morphology ORPHA:163681
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
Van Maldergem Syndrome 1
Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri... OMIM:601390
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
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
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Colpocephaly OMIM:619833
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:614887
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
6Q Terminal Deletion Syndrome
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periven... ORPHA:75857
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria OMIM:247200
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Van Maldergem Syndrome 2
Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615546
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618476
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Colpocephaly ORPHA:261250
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Gray matter heterotopia, Pachygyria OMIM:620024
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Simplified gyral pattern, Pachygyria, Agenesis of corpus callosum, Lissencephaly,... ORPHA:468631
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Aicardi Syndrome
Polymicrogyria, Gray matter heterotopia, Pachygyria, Lateral ventricle dilatation, Partial agenes... OMIM:304050
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:214100
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Holoprosencephaly 14
Periventricular heterotopia, Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:619895
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colpocephaly, Agenesis of co... OMIM:618820
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Abnormal cortical gyration, Agenesis of corpus callosum, Gray matter hete... OMIM:311200
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia OMIM:305450
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia OMIM:618918
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Polymicrogyria, Microlissencephaly, Gray matter heterotopia, Colpocep... OMIM:210710
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of corpus callosum OMIM:603671
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
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum OMIM:615287
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Arima Syndrome
Gray matter heterotopia OMIM:243910
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Polymicrogyria, Periventricular heterotopia, Partial agenesis of the co... OMIM:615948
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia, Agenesis of corpus callosum OMIM:236680
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia, Colpocephaly, Partial agenesis of the corpus callosum OMIM:270400
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Partial agenesis of the corpus callosum ORPHA:434179
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 Dgcr8

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 Dgcr8.

No publications found that use IMPC mice or data for Dgcr8.

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MGI Allele Allele Type Produced
Dgcr8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dgcr8tm42235(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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