Dsp | desmoplakin

GeneMGI:109611Synonyms: 5730453H04Rik, 2300002E22Rik, +2 more

Physiological systems

22 / 24 physiological systems tested

6 Significantly impacted by the knock-out

 Immune system Embryo Nervous system Mortality/aging Cardiovascular system Craniofacial

16 No significant impact

2 Not tested

Gene metrics:11Significant phenotypes
16Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal neural tube morphology1 supporting datasetDspem1(IMPC)MbphomozygoteE9.5N/A * 
enlarged lymph nodes2 supporting datasetsDspem1(IMPC)MbpheterozygoteEarly adultN/A * 
abnormal neural tube closure1 supporting datasetDspem1(IMPC)MbpheterozygoteE9.5N/A * 
abnormal pharyngeal arch morphology1 supporting datasetDspem1(IMPC)MbphomozygoteE9.5N/A * 
preweaning lethality, complete penetrance3 supporting datasetsDspem1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal heart morphology1 supporting datasetDspem1(IMPC)MbphomozygoteE9.5N/A * 
abnormal embryo turning1 supporting datasetDspem1(IMPC)MbphomozygoteE9.5N/A * 
abnormal neural tube morphology1 supporting datasetDspem1(IMPC)MbpheterozygoteE9.5N/A * 
abnormal placenta morphology1 supporting datasetDspem1(IMPC)MbpheterozygoteE15.5N/A * 
prenatal lethality prior to heart atrial septation1 supporting datasetDspem1(IMPC)MbphomozygoteE15.5N/A * 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

Human diseases caused by Dsp 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.






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Histopathology

IMPC related publications

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Dspem1(IMPC)MbpExon Deletionmouse
Dsptm356609(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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