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Gene: Ccser2 MGI:101859

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

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

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 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
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
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
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Chudley-Mccullough Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corp... OMIM:604213
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Band Heterotopia
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... 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
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Polymicrogyria, Abnormal cortical gyration OMIM:619602
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... OMIM:616212
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Subependymal Nodular Heterotopia
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... ORPHA:101030
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis... ORPHA:89844
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Acalvaria
Abnormality of neuronal migration ORPHA:945
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
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
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
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia ORPHA:255138
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu... OMIM:615219
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum, Type II lissencephaly ORPHA:370959
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
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
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Gray matter heterotopia, Polymicrogyria OMIM:614887
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration 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
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
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
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia OMIM:187600
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
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
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration OMIM:608836
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration ORPHA:2065
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration 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
Agenesis of corpus callosum, Abnormality of neuronal migration ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria, Neonatal death OMIM:620024
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... ORPHA:75857
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
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618476
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
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
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum OMIM:603671
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria,... ORPHA:468631
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Aicardi Syndrome
Partial agenesis of the corpus callosum, Gray matter heterotopia, Lateral ventricle dilatation, P... OMIM:304050
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Polymicrogyria, Agenesis of co... 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, Partial agenesis of the corpus callosum, Microlissencephaly, Gray mat... OMIM:210710
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum OMIM:305450
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Orofaciodigital Syndrome I
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration 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
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly OMIM:615287
Hydrolethalus Syndrome 1
Gray matter heterotopia, Stillbirth, Agenesis of corpus callosum, Abnormal cortical gyration OMIM:236680
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Fontaine Progeroid Syndrome
Neonatal death, Gray matter heterotopia, Periventricular heterotopia 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, Polymicrogyria, Simplified gyral pattern, Periventricula... OMIM:615948
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Colpocephaly, Periventricular heterotopia OMIM:270400
Genitopatellar Syndrome
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia 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
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 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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