Gene Summary

Name:
EF-hand calcium binding domain 3
Synonyms:
Efcab13,  4921510J17Rik,  Gm11639,  Efcab15

IMPC Data Collections

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.

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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 Efcab3 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 Efcab3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum ORPHA:65285
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Enlarged cerebellum ORPHA:85165
Microcephaly 29, Primary, Autosomal Recessive
Enlarged cerebellum OMIM:620047
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia ORPHA:488635
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Costello Syndrome
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly OMIM:218040
Coffin-Siris Syndrome 12
Chiari malformation, Enlarged cerebellum, Noncommunicating hydrocephalus OMIM:619325
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... OMIM:607596
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker m... OMIM:618736
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Enlarged cerebellum, Chiari type I m... ORPHA:261537
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia ... OMIM:617751
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Enlarged cerebellum, Chiari type I m... ORPHA:261552
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C... OMIM:613154
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Abnormal dentate nucleus m... OMIM:619517
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Agenesis of corpus callosum, Enlarge... ORPHA:2152
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:616034
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Mol... OMIM:608629
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:616602
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Cach Syndrome
Cerebellar atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration ... ORPHA:135
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar gliosis, Lateral ventricle dilatation, Agenes... ORPHA:79243
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:614219
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Dandy-Walker ... OMIM:618606
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly OMIM:618291
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar hypoplasia, Dandy-Walker malfo... ORPHA:3078
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Colpocep... ORPHA:397715
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:420179
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:617397
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degenerat... ORPHA:356961
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Atrophy/Dege... ORPHA:565624
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Fanconi Anemia, Complementation Group I
Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:609053
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Lateral ventricle dil... ORPHA:572798
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatati... ORPHA:300570
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Cog5-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem ORPHA:263487
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Abnormal cereb... ORPHA:544488
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Ventr... OMIM:619479
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Colpocephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebellar ... OMIM:614866
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Khan-Khan-Katsanis Syndrome
Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:618460
Aicardi Syndrome
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Choroid plexus cyst, Later... OMIM:304050
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Cerebellar vermis hypoplasia OMIM:620083
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:618820
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:619869
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Partial agenesis of the corpus callosum, Hydrocephalus, Chiari type I malform... OMIM:270400
6Q Terminal Deletion Syndrome
Colpocephaly, Cerebellar hypoplasia ORPHA:75857
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callo... OMIM:210710
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Chiari type I malformation, Abnormal lateral ventricle morphology, Chiari malformation ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Chiari type I malformation, Abnormal lateral ventricle morphology, Chiari malformation ORPHA:353277
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300896
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170

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 Efcab3

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 Efcab3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Efcab3em1(IMPC)Wtsi PMC7263671
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci. Nature genetics (October 2018) Efcab3em1(IMPC)Wtsi 30275530

Order Mouse and ES Cells

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
Efcab3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Efcab3em1(IMPC)Wtsi Deletion Mice
Efcab3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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