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Gene: Ccser2 MGI:101859

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Gene Summary

Name:
coiled-coil serine rich 2
Synonyms:
Gcap14,  2900054P12Rik,  1700012P13Rik

Order Alleles

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes

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 Ccser2 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 Ccser2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... ORPHA:101029
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... OMIM:611603
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Chudley-Mccullough Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Pol... OMIM:604213
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
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
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopi... OMIM:600348
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
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria OMIM:619602
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
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria ORPHA:2512
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... OMIM:616212
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop... ORPHA:101030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Agenesis of corpus callosum, 4-layered lis... ORPHA:89844
Joubert Syndrome 30
Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria 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
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Partial agenesis of the corpus callosum, Pachygyria, Subco... OMIM:614643
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria 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
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... ORPHA:899
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly, Simplified gyr... OMIM:615219
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Agenesis of corpus callosum, Gray matter heterotopia, Polymicrogyria ORPHA:370959
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... ORPHA:35107
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Neonatal death, Polymicrogyria OMIM:614887
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation OMIM:614105
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Agenesis of corpus callosum, Pachygyria, Polymicrogyria ORPHA:157
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria OMIM:619775
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Neonatal death OMIM:187600
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... 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
Abnormality of neuronal migration, Polymicrogyria ORPHA:475
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria OMIM:608836
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Agenesis of corpus callosum, Pachygyria, Polymicrogyria ORPHA:228308
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Periventricular heterotopia OMIM:619833
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria, Neonatal death OMIM:620024
6Q Terminal Deletion Syndrome
Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra... ORPHA:75857
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum ORPHA:314679
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
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
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618476
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria OMIM:251300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lissencepha... 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
Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Partial agenesis of the corpus callosum... OMIM:304050
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte... OMIM:618820
Holoprosencephaly 14
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia OMIM:619895
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Lateral ventricle dilatation, Pachygyria, Polymicrogyria, Agenesis of... OMIM:210710
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum OMIM:305450
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration, Agenesis of corpus callosum OMIM:311200
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
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
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular 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
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Agenesis of corpus callosum, Stillbirth OMIM:236680
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
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia, Neonatal death OMIM:612289
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Arima Syndrome
Gray matter heterotopia OMIM:243910
Orofaciodigital Syndrome Xiv
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia, P... OMIM:615948
Smith-Lemli-Opitz Syndrome
Colpocephaly, Partial agenesis of the corpus callosum, Periventricular heterotopia OMIM:270400
Genitopatellar Syndrome
Pachygyria, Colpocephaly, Periventricular heterotopia, Agenesis of corpus callosum OMIM:606170
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Periventricular heterotopia 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
Agenesis of corpus callosum, Periventricular heterotopia, 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 Ccser2

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 Ccser2.

No publications found that use IMPC mice or data for Ccser2.

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