Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 |
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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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