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 | ORPHA:53372 | |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome | Abnormal social behavior | ORPHA:436151 | |
Asperger Syndrome, X-Linked, Susceptibility To, 2 | Impaired ability to form peer relationships, Impaired use of nonverbal behaviors | OMIM:300497 | |
Asperger Syndrome, X-Linked, Susceptibility To, 1 | Impaired ability to form peer relationships, Impaired use of nonverbal behaviors | OMIM:300494 | |
Asperger Syndrome, Susceptibility To, 1 | Impaired ability to form peer relationships, Impaired use of nonverbal behaviors | OMIM:608638 | |
Asperger Syndrome, Susceptibility To, 2 | Impaired ability to form peer relationships, Impaired use of nonverbal behaviors | OMIM:608631 | |
Intellectual Developmental Disorder, Autosomal Recessive 66 | Shyness | OMIM:618221 | |
Intellectual Developmental Disorder With Autism And Speech Delay | Impaired social interactions | OMIM:606053 | |
Glycosylphosphatidylinositol Biosynthesis Defect 17 | Overfriendliness | OMIM:618010 | |
Chromosome Xp11.23-P11.22 Duplication Syndrome | Shyness | OMIM:300801 | |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency | No social interaction, Impaired social interactions | ORPHA:329249 | |
Hsd10 Disease | Tremor, Abnormal social behavior | ORPHA:391417 | |
11Q22.2Q22.3 Microdeletion Syndrome | Abnormal social behavior, Poor eye contact | ORPHA:444002 | |
Dopa-Responsive Dystonia | Tremor, Abnormal social behavior, Fatigable weakness | ORPHA:255 | |
Female Restricted Epilepsy With Intellectual Disability | Abnormal social behavior | ORPHA:101039 | |
Severe Intellectual Disability And Progressive Spastic Paraplegia | Shyness | ORPHA:280763 | |
Lamb-Shaffer Syndrome | Abnormal social behavior | ORPHA:530983 | |
Tonne-Kalscheuer Syndrome | Tremor, Shyness | OMIM:300978 | |
X-Linked Intellectual Disability, Cilliers Type | Shyness | ORPHA:163971 | |
Developmental And Epileptic Encephalopathy 8 | Exaggerated startle response | OMIM:300607 | |
Hyperekplexia 3 | Exaggerated startle response | OMIM:614618 | |
Metachromatic Leukodystrophy, Juvenile Form | Abnormal social behavior, Intention tremor | ORPHA:309263 | |
Early-Onset Autosomal Dominant Alzheimer Disease | Abnormal social behavior | ORPHA:1020 | |
Childhood Absence Epilepsy | Abnormal social behavior | ORPHA:64280 | |
Symptomatic Form Of Fragile X Syndrome In Female Carriers | Impaired social interactions, Poor eye contact, Shyness | ORPHA:449291 | |
Hyperekplexia-Epilepsy Syndrome | Exaggerated startle response | ORPHA:163985 | |
Blepharophimosis-Impaired Intellectual Development Syndrome | Overfriendliness | OMIM:619293 | |
Metachromatic Leukodystrophy, Adult Form | Abnormal social behavior, Intention tremor | ORPHA:309271 | |
Metachromatic Leukodystrophy, Late Infantile Form | Abnormal social behavior | ORPHA:309256 | |
Hyperekplexia 2 | Exaggerated startle response | OMIM:614619 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Overfriendliness | ORPHA:369891 | |
48,Xxxy Syndrome | Tremor, Abnormal social behavior | ORPHA:96263 | |
Luscan-Lumish Syndrome | Shyness | OMIM:616831 | |
Cri-Du-Chat Syndrome | Overfriendliness | OMIM:123450 | |
Developmental And Epileptic Encephalopathy 68 | Exaggerated startle response | OMIM:618201 | |
Fg Syndrome Type 1 | Abnormal social behavior | ORPHA:93932 | |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination | Exaggerated startle response | OMIM:618367 | |
Early-Onset Schizophrenia | Lack of peer relationships, No social interaction, Shyness | ORPHA:96369 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Exaggerated startle response | OMIM:609541 | |
Spastic Tetraplegia And Axial Hypotonia, Progressive | Exaggerated startle response | OMIM:618598 | |
49,Xxxxy Syndrome | Tremor, Shyness, Overfriendliness | ORPHA:96264 | |
Stiff Person Spectrum Disorder | Exaggerated startle response | ORPHA:3198 | |
Hyperekplexia 1 | Exaggerated startle response | OMIM:149400 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Exaggerated startle response | ORPHA:320406 | |
Tay-Sachs Disease | Exaggerated startle response | OMIM:272800 | |
Stiff-Person Syndrome | Opisthotonus, Exaggerated startle response | OMIM:184850 | |
Non-Progressive Cerebellar Ataxia With Intellectual Disability | Abnormal social behavior, Intention tremor | ORPHA:314647 | |
Van Esch-O'Driscoll Syndrome | Shyness | OMIM:301030 | |
Gm2 Gangliosidosis, Ab Variant | Exaggerated startle response | ORPHA:309246 | |
Koolen-De Vries Syndrome | Overfriendliness | ORPHA:96169 | |
Prader-Willi Syndrome Due To Translocation | Abnormal social behavior, Impaired social interactions | ORPHA:177907 | |
Dihydropyrimidine Dehydrogenase Deficiency | Abnormal social behavior | ORPHA:1675 | |
Asparagine Synthetase Deficiency | Exaggerated startle response | OMIM:615574 | |
Gm2-Gangliosidosis, Ab Variant | Exaggerated startle response | OMIM:272750 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Limb tremor, Exaggerated startle response | OMIM:608643 | |
Trichothiodystrophy | Impaired social reciprocity, Intention tremor | ORPHA:33364 | |
Trichotillomania | Hair-pulling | OMIM:613229 | |
1P21.3 Microdeletion Syndrome | Shyness | ORPHA:293948 | |
Mend Syndrome | Abnormal social behavior | ORPHA:401973 | |
Glycine Encephalopathy With Normal Serum Glycine | Exaggerated startle response | OMIM:617301 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation | Exaggerated startle response | ORPHA:438216 | |
Niemann-Pick Disease Type C | Tremor, Abnormal social behavior, Intention tremor | ORPHA:646 | |
Sandhoff Disease | Exaggerated startle response | OMIM:268800 | |
Koolen-De Vries Syndrome Due To A Point Mutation | Overfriendliness, Abnormal social behavior | ORPHA:363965 | |
17Q21.31 Microdeletion Syndrome | Overfriendliness, Abnormal social behavior | ORPHA:363958 | |
Tay-Sachs Disease | Tremor, Exaggerated startle response | ORPHA:845 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Exaggerated startle response | OMIM:253800 | |
Gm1 Gangliosidosis Type 1 | Exaggerated startle response | ORPHA:79255 | |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies | Exaggerated startle response | OMIM:617527 | |
Plaa-Associated Neurodevelopmental Disorder | Exaggerated startle response | ORPHA:521426 | |
Tuberous Sclerosis Complex | Abnormal social behavior | ORPHA:805 | |
Williams Syndrome | Tremor, Overfriendliness, Abnormal social behavior | ORPHA:904 | |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome | Shyness, Intention tremor | ORPHA:466791 | |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities | Exaggerated startle response | OMIM:619522 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Exaggerated startle response | ORPHA:438213 | |
Autosomal Dominant Robinow Syndrome | ORPHA:3107 | ||
Robinow Syndrome, Autosomal Dominant 2 | OMIM:616331 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Dvl1tm3e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Dvl1tm2e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Dvl1tm1(NCOM)Mfgc | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors, 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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