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Gene: Smarcc1 MGI:1203524

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

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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 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.

The table below shows human diseases associated to Smarcc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241

The table below shows human diseases predicted to be associated to Smarcc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Band Heterotopia
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:600348
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Congenital Hydrocephalus
Colpocephaly, Hydrocephalus, Ventriculomegaly ORPHA:2185
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Joubert Syndrome 15
Exencephaly OMIM:614464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Wal... OMIM:613154
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
2,4-Dienoyl-Coa Reductase Deficiency
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:616034
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly OMIM:620156
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly OMIM:618291
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal... ORPHA:397715
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus OMIM:614219
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Umbilical hernia, Lateral ventricle dilatation OMIM:617751
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Halperin-Birk Syndrome
Colpocephaly, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopros... OMIM:618651
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Lateral v... ORPHA:79243
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation ORPHA:135
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test OMIM:609053
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle ORPHA:544488
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil... OMIM:304050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lateral ventricle dilatation OMIM:618914
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus OMIM:619575
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... ORPHA:1855
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:617260
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus OMIM:612863
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Abnormal thalamus morphol... ORPHA:300570
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Dilated third ventricle, Ventriculomegaly OMIM:615574
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Distal Deletion 10Q
Lateral ventricle dilatation, Spina bifida occulta ORPHA:96148
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:309801
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Weaver Syndrome
Umbilical hernia, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle ORPHA:314404
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly OMIM:619479
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:618820
Peroxisome Biogenesis Disorder 5A (Zellweger)
Colpocephaly, Agenesis of corpus callosum OMIM:614866
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation OMIM:615485
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Anterior pit... ORPHA:177907
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... ORPHA:434179
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Short umbilical cord OMIM:618367
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Holoprosencephaly, Dandy-Wa... OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio... OMIM:210710
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Ventriculome... OMIM:615873
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation OMIM:263520
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation OMIM:300868
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology ORPHA:353277
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul... ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus OMIM:607872
Kabuki Syndrome 1
Lateral ventricle dilatation, Hydrocephalus OMIM:147920
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Anterior pituitary hypoplasia OMIM:619534
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum 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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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