Epb41l1 | erythrocyte membrane protein band 4.1 like 1

GeneMGI:103010Synonyms: 4.1N, Epb4.1l1

Physiological systems

17 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Homeostasis/metabolism Pigmentation Adipose tissue Growth/size/body region Vision/eye Behavior/neurological Skeleton Cardiovascular system

9 No significant impact

7 Not tested

Gene metrics:16Significant phenotypes
2Associated diseases
Expression examined in:48Adult tissues
50Embryo tissues

Phenotypes

increased lean body mass1 supporting datasetEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult5.11x10-7 
improved glucose tolerance2 supporting datasetsEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult3.54x10-7 
decreased grip strength2 supporting datasetsEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult7.34x10-12 
increased circulating aspartate transaminase level1 supporting datasetEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult7.77x10-5 
hyperactivity10 supporting datasetsEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult2.55x10-31 
increased startle reflex1 supporting datasetEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult5.8x10-6 
abnormal iris pigmentation1 supporting datasetEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult5.62x10-7 
abnormal locomotor behavior1 supporting datasetEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult1.39x10-5 
increased bone mineral content1 supporting datasetEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult9.65x10-5 
decreased thigmotaxis2 supporting datasetsEpb41l1tm1b(EUCOMM)WtsihomozygoteEarly adult5.27x10-5 
* 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

adrenal glandheterozygoteSection images
100% (2/2)0.7% (4/570)
aortaheterozygoteSection images
100% (2/2)0.19% (1/533)
brainheterozygoteSection images
100% (2/2)0.86% (5/579)
brainstemheterozygoteSection images
100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoteSection images
n/a0% (0/588)
cartilage tissueheterozygoteSection images
100% (2/2)0.22% (1/454)
cerebellumheterozygoteSection images
100% (2/2)0.56% (3/532)
cerebral cortexheterozygoteSection images
100% (2/2)0.41% (2/491)
epididymisheterozygoteSection images
100% (1/1)87.5% (21/24)
esophagusheterozygoteSection images
100% (2/2)1.67% (7/419)
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Human diseases caused by Epb41l1 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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Epb41l1tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Epb41l1tm1b(EUCOMM)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Epb41l1tm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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