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Gene: Mdga1 MGI:1922012

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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:
MAM domain containing glycosylphosphatidylinositol anchor 1
Synonyms:
1200011I03Rik,  Mamdc3

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 Mdga1 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 Mdga1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Perisylvian polymicrogyria OMIM:615752
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:300067
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Joubert Syndrome 13
Pachygyria OMIM:614173
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia OMIM:620065
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration ORPHA:101030
Acalvaria
Abnormality of neuronal migration ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Glutathionuria
Gray matter heterotopia OMIM:231950
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
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... OMIM:614643
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome
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 ORPHA:93274
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly ORPHA:370959
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration ORPHA:2065
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia OMIM:619833
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
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
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter... ORPHA:75857
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria ORPHA:468631
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
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
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Vici Syndrome
Gray matter heterotopia OMIM:242840
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Microlissencephaly, Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:210710
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:618820
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Type II lissencephaly OMIM:615287
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia OMIM:615948
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Periventricular heterotopia ORPHA:261537
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Periventricular heterotopia ORPHA:261552

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 Mdga1

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 Mdga1.

No publications found that use IMPC mice or data for Mdga1.

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MGI Allele Allele Type Produced
Mdga1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdga1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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