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Gene: Dvl1 MGI:94941

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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:
dishevelled segment polarity protein 1
Synonyms:
N/A

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 Dvl1 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 Dvl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Robinow Syndrome
ORPHA:3107
Robinow Syndrome, Autosomal Dominant 2
OMIM:616331

The table below shows human diseases predicted to be associated to Dvl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions OMIM:611092
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions OMIM:618103
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness OMIM:618221
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired social interactions OMIM:608636
Hsd10 Disease
Tremor, Abnormal social behavior, Choreoathetosis ORPHA:391417
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions ORPHA:329249
Parkinsonism-Dystonia 3, Childhood-Onset
Tremor, Action tremor, Impaired social interactions, Dystonia OMIM:619738
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Abnormal social behavior, Intention tremor ORPHA:309263
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Dystonia ORPHA:309256
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
48,Xxxy Syndrome
Tremor, Abnormal social behavior ORPHA:96263
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Metachromatic Leukodystrophy, Adult Form
Dystonia, Abnormal social behavior, Intention tremor ORPHA:309271
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Trichotillomania
Hair-pulling OMIM:613229
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Intention tremor ORPHA:314647
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Tremor, Limb dystonia, Abnormal social behavior, Intention tremor ORPHA:646
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Trichothiodystrophy
Reduced social reciprocity, Intention tremor ORPHA:33364
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Mend Syndrome
Abnormal social behavior ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363958
Choreoacanthocytosis
Resting tremor, Head titubation, Hair-pulling, Socially inappropriate behavior, Blepharospasm, Li... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Williams Syndrome
Tremor, Abnormal social behavior, Overfriendliness ORPHA:904
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling OMIM:616393
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Dystonia OMIM:620330
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Robinow Syndrome, Autosomal Dominant 2
OMIM:616331
Autosomal Dominant Robinow Syndrome
ORPHA:3107

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 Dvl1

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 Dvl1.

No publications found that use IMPC mice or data for Dvl1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dvl1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dvl1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Dvl1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dvl1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dvl1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dvl1tm43022(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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