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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

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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 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
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Exaggerated startle response OMIM:617028
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Absent speech OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Absent speech OMIM:620114
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Delayed speech and language development, Absent speech, Truncal tit... OMIM:618056
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Absent speech OMIM:616881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Absent speech OMIM:617864
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tay-Sachs Disease
Exaggerated startle response, Absent speech, Tremor, Laryngeal dystonia, Speech articulation diff... ORPHA:845
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Plaa-Associated Neurodevelopmental Disorder
Delayed speech and language development, Exaggerated startle response, Dystonia ORPHA:521426
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Trichotillomania
Hair-pulling OMIM:613229
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Absent speech OMIM:616393
Sandhoff Disease
Exaggerated startle response OMIM:268800
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
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
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Delayed speech and language development, Hair-pulling ORPHA:447997
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Receptive language delay, Absent speech ORPHA:438213
Monosomy 22Q13.3
Delayed speech and language development, Hair-pulling ORPHA:48652
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Delayed speech and language development, Exaggerated startle response OMIM:619522
Choreoacanthocytosis
Blepharospasm, Hair-pulling, Resting tremor, Lingual dystonia, Limb dystonia, Head titubation, Or... ORPHA:2388
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.

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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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