Version: 8.0.0Date: Tue Jan 28 2025
Gene
Dsp
- Species
- Mus musculus
- Symbol
- Dsp
- Name
- desmoplakin
- Synonyms
- 2300002E22Rik
- 5730453H04Rik
- Biotype
- protein coding gene
- Automated Description
- Predicted to enable protein kinase C binding activity; scaffold protein binding activity; and structural molecule activity. Involved in several processes, including desmosome organization; intermediate filament organization; and ventricular compact myocardium morphogenesis. Acts upstream of or within several processes, including adherens junction organization; intermediate filament cytoskeleton organization; and skin development. Located in several cellular components, including adherens junction; basolateral plasma membrane; and intercalated disc. Colocalizes with intermediate filament. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; heart; and sensory organ. Used to study Carvajal syndrome and arrhythmogenic right ventricular dysplasia 8. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; dilated cardiomyopathy; and keratosis palmoplantaris striata 2. Orthologous to human DSP (desmoplakin).
- MGI Description
- PHENOTYPE: Homozygous null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis. Epidermis-specific conditional KO leads to compositionally altered epidermal desmosomes. Homozygosity for a specific point mutation is embryonic lethal while heterozygosity increases sensitivity to induced heart stress. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23169
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr13:38335357...38382553 + (47.20 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.