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

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 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
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Pachygyria OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Pachygyria, Gray matter heterotopia, Subcortical band heterotopia OMIM:615412
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria OMIM:615411
Lissencephaly 1
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria OMIM:607432
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria OMIM:615752
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Polymicrogyria, Abn... OMIM:604317
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Pachygyria, Gray matter heterotopia OMIM:300067
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Lissencephaly 3
Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria OMIM:611603
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Subcortical band heterotopia OMIM:600348
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Joubert Syndrome 13
Pachygyria OMIM:614173
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:617201
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Chudley-Mccullough Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:604213
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Periventricular ribbonlike heterotopia OMIM:618677
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
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 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Intellectual Developmental Disorder, Autosomal Dominant 13
Pachygyria, Abnormality of neuronal migration OMIM:614563
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Polymicrogyria,... OMIM:616212
Hemimegalencephaly
Polymicrogyria, Pachygyria, Gray matter heterotopia ORPHA:99802
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
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
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Gray matter heterotopia ORPHA:101030
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Gray matter heterotopia OMIM:615219
Walker-Warburg Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:899
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Subcortical heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Type II liss... OMIM:614643
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:2211
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Desmosterolosis
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:35107
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Gray matter heterotopia ORPHA:370959
Neu-Laxova Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:2671
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Pachygyria ORPHA:255138
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration ORPHA:2065
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Miller-Dieker Lissencephaly Syndrome
Agyria, Lissencephaly, Pachygyria, Gray matter heterotopia OMIM:247200
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Van Maldergem Syndrome 2
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia OMIM:615546
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Polymicrogyria, Gray matter heter... ORPHA:75857
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Periventricular Nodular Heterotopia 9
Polymicrogyria, Gray matter heterotopia, Periventricular nodular heterotopia OMIM:618918
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:214100
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian polymicrogyria, Abnormalit... ORPHA:98889
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:468631
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Vici Syndrome
Gray matter heterotopia OMIM:242840
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Aicardi Syndrome
Polymicrogyria, Pachygyria, Gray matter heterotopia OMIM:304050
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Orofaciodigital Syndrome I
Abnormal cortical gyration, Gray matter heterotopia OMIM:311200
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Arima Syndrome
Gray matter heterotopia OMIM:243910
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
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:618820
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia OMIM:210710
Fontaine Progeroid Syndrome
Periventricular heterotopia, Gray matter heterotopia OMIM:612289
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Gray matter heterotopia OMIM:236680
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Simplified gyral pattern, Polymicrogyria OMIM:615948
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Periventricular heterotopia, Polymicrogyria ORPHA:261537
Mowat-Wilson Syndrome
Periventricular heterotopia, Polymicrogyria ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Periventricular heterotopia, Polymicrogyria 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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