Eps15l1 | epidermal growth factor receptor pathway substrate 15-like 1
Physiological systems
17 / 24 physiological systems tested
5 Significantly impacted by the knock-out
Homeostasis/metabolism Adipose tissue Vision/eye Hematopoietic system Behavior/neurological
12 No significant impact
7 Not tested
Data collections
Gene metrics:7Significant phenotypes
1Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| decreased total body fat amount | 1 supporting dataset | Eps15l1em1(IMPC)J | homozygote | Early adult | 9.53x10-5 | ||
| hyperactivity | 8 supporting datasets | Eps15l1em1(IMPC)J | homozygote | Early adult | 3.28x10-26 | ||
| irregularly shaped pupil | 1 supporting dataset | Eps15l1em1(IMPC)J | homozygote | Early adult | 2.03x10-5 | ||
| increased mean corpuscular volume | 1 supporting dataset | Eps15l1em1(IMPC)J | homozygote | Early adult | 3.69x10-6 | ||
| increased mean corpuscular hemoglobin | 1 supporting dataset | Eps15l1em1(IMPC)J | homozygote | Early adult | 2.19x10-8 | ||
| abnormal vocalization | 1 supporting dataset | Eps15l1em1(IMPC)J | homozygote | Early adult | 2.94x10-10 | ||
| increased circulating alkaline phosphatase level | 1 supporting dataset | Eps15l1em1(IMPC)J | homozygote | Early adult | 1.27x10-13 |
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Human diseases caused by Eps15l1 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.
External links
No external links available for Eps15l1.
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| Eps15l1em1(IMPC)J | Exon Deletion | | mouse |
| Eps15l1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Eps15l1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |