Enkur | enkurin, TRPC channel interacting protein

GeneMGI:1918483Synonyms: 4933434I06Rik

Physiological systems

22 / 24 physiological systems tested

7 Significantly impacted by the knock-out

 Homeostasis/metabolism Reproductive system Integument Growth/size/body region Behavior/neurological Craniofacial Cardiovascular system

15 No significant impact

2 Not tested

Gene metrics:7Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

no spontaneous movement1 supporting datasetEnkurem1(IMPC)MbphomozygoteE18.5N/A * 
abnormal skin morphology1 supporting datasetEnkurem1(IMPC)MbpheterozygoteEarly adultN/A * 
male infertility1 supporting datasetEnkurem1(IMPC)MbphomozygoteEarly adultN/A * 
no spontaneous movement1 supporting datasetEnkurem1(IMPC)MbpheterozygoteE18.5N/A * 
abnormal facial morphology1 supporting datasetEnkurem1(IMPC)MbphomozygoteE18.5N/A * 
abnormal head shape1 supporting datasetEnkurem1(IMPC)MbphomozygoteE18.5N/A * 
hemorrhage1 supporting datasetEnkurem1(IMPC)MbphomozygoteE18.5N/A * 
increased circulating alkaline phosphatase level1 supporting datasetEnkurem1(IMPC)MbpheterozygoteEarly adult1.04x10-6 
* 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 Enkur 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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Enkurem1(IMPC)MbpExon Deletionmouse
Enkurtm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell
Enkurtm34117(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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