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Gene: Efcab3 MGI:1918144

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Gene Summary

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

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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.

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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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
Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydroc... OMIM:604213
Lhermitte-Duclos Disease
Enlarged cerebellum, Hydrocephalus ORPHA:65285
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum 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
Cerebellar hypoplasia, Lateral ventricle dilatation, 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
Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Cerebellar atrophy ORPHA:488635
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degene... ORPHA:77299
Costello Syndrome
Chiari type I malformation, Ventriculomegaly, Enlarged cerebellum, Hydrocephalus OMIM:218040
Coffin-Siris Syndrome 12
Enlarged cerebellum, Chiari malformation, Noncommunicating hydrocephalus OMIM:619325
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia of the pons, Abnormal brainstem morp... ORPHA:300573
Pontocerebellar Hypoplasia, Type 1A
Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia of the ventral pons, Hypoplasia o... OMIM:607596
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Enlarged cerebellum, Agenesis of corp... ORPHA:261537
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Hypoplasia of the pons, Dandy-Walker malformation, Agenesis of corp... OMIM:618736
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Enlarged cerebellum, Agenesis of corp... ORPHA:261552
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Enlarged cerebellum, Agenesis of corpus callosum,... ORPHA:2152
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... OMIM:613154
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Colpocephaly, Cerebellar atrophy, Hydrocephalus OMIM:616034
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cerebellar hypoplasia, Colpocephaly OMIM:618731
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus c... OMIM:616602
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, Lateral ventricle dilatation, Cerebellar vermis atrophy, 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
Ventriculomegaly, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Agenesis... ORPHA:79243
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia of the pons, Dandy-Walker ... OMIM:618606
Adams-Oliver Syndrome 2
Cerebellar hypoplasia, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation OMIM:614219
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation ORPHA:284417
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Ventriculomegaly, Lateral ventricle dilatation OMIM:618291
Severe X-Linked Intellectual Disability, Gustavson Type
Cerebellar hypoplasia, Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malfo... ORPHA:3078
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Dysgenesis of the cerebe... ORPHA:397715
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem ORPHA:420179
Pseudo-Torch Syndrome 2
Cerebellar hypoplasia, Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Atrophy/Degenerat... ORPHA:356961
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Combined Oxidative Phosphorylation Defect Type 39
Cerebellar hypoplasia, Abnormal cerebellum morphology, Lateral ventricle dilatation, Atrophy/Dege... ORPHA:565624
Fanconi Anemia, Complementation Group I
Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:609053
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,... ORPHA:572798
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainstem, Cerebell... ORPHA:300570
Cog5-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem ORPHA:263487
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum 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, Abnormal cerebellar vermis morphology, Dilated third ventricle, Later... ORPHA:544488
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
Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Molar tooth ... OMIM:619479
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Cerebellar vermis atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia... OMIM:614866
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:620113
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Spondyloenchondrodysplasia
Ventriculomegaly, Abnormal lateral ventricle morphology ORPHA:1855
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:617260
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Colpocephaly, Ventriculomegaly OMIM:618460
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... OMIM:304050
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cerebellar vermis hypoplasia, Colpocephaly OMIM:620083
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrocephalus, Colpocephaly, Dilated third ventricle, Lateral ventricle dilatation OMIM:620371
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Agenesis of corpus callosum OMIM:618820
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
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
6Q Terminal Deletion Syndrome
Cerebellar hypoplasia, Colpocephaly ORPHA:75857
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:309801
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Chiari type I malformation, Colpocephaly, Hydrocephalus, Partial agenesis of ... OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Partial agenesis of the corpus callos... 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
Cerebellar hypoplasia, Lateral ventricle dilatation 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
Efcab3em1(IMPC)J Exon Deletion Mice
Efcab3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Efcab3em1(IMPC)Wtsi Deletion Mice
Efcab3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Efcab3tm33707(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Efcab3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Efcab3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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