Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
Synonyms:
BAF155,  SRG3,  msp3

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 Smarcc1 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 Smarcc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Primary microcephaly, Simpli... ORPHA:284417
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Microcephaly, Dandy-Walker malformati... OMIM:618606
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricul... ORPHA:500055
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Ventriculomegaly, Umbilical hernia, Agenesis of corpus... OMIM:618651
Glutamine Deficiency, Congenital
Subependymal cysts, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:610015
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ventricles, Menin... ORPHA:397715
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum, Decreased resp... OMIM:609053
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Dilation of lateral ventricles ORPHA:135
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Dilation of lateral ventricles, Dandy-Walker malformation ORPHA:3078
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Polymicrogyria, Abnormal cortical gyration, Macrogyria, Lissencephaly ORPHA:2211
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Dilation of lateral ventr... OMIM:304050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles, Umbilical hernia OMIM:618914
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral calcification, Abnor... ORPHA:1855
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh... ORPHA:572798
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr... ORPHA:464738
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy ORPHA:314404
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Distal Monosomy 10Q
Cavum septum pellucidum, Microcephaly, Dilation of lateral ventricles, Spina bifida occulta ORPHA:96148
Cog5-Cdg
Microcephaly, Diffuse cerebral atrophy, Cerebral white matter atrophy, Dilation of lateral ventri... ORPHA:263487
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... ORPHA:457279
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo... OMIM:618820
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Weaver Syndrome
Dilation of lateral ventricles, Umbilical hernia, Absent septum pellucidum OMIM:277590
Khan-Khan-Katsanis Syndrome
Microcephaly, Colpocephaly OMIM:618460
Mosaic Trisomy 1
Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles ORPHA:1692
Kohlschutter-Tonz Syndrome-Like
Secondary microcephaly, Ventriculomegaly, Microcephaly, Dilation of lateral ventricles OMIM:619229
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Polymicrogyria, Col... ORPHA:75857
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Microcephal... ORPHA:434179
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia ORPHA:477993
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Cerebral cortical atrophy, Microcephaly, Dilation of lateral ventr... ORPHA:177907
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Dilation of lateral ventricles OMIM:263520
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Dilation of lateral ventricles OMIM:300896
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum, Colpocephaly OMIM:606170
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cereb... ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Secondary microcephaly, Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Secondary microcephaly, Abnormal lateral ventricle morphology ORPHA:353277
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Cerebral cortical atrophy, Abnormal hippocampu... ORPHA:2388
Chromosome 1P36 Deletion Syndrome
Pachygyria, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral cortical atr... OMIM:607872
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnormal corpus callosum mor... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Abnormal corpus callosum mor... 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 Smarcc1

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 Smarcc1.

No publications found that use IMPC mice or data for Smarcc1.

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MGI Allele Allele Type Produced
Smarcc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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