Esrp1 | epithelial splicing regulatory protein 1
Physiological systems
22 / 24 physiological systems tested
12 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Endocrine/exocrine gland Embryo Growth/size/body region Digestive/alimentary Limbs/digits/tail Skeleton Craniofacial Cardiovascular system Mortality/aging Renal/urinary system
10 No significant impact
2 Not tested
Data collections
Gene metrics:18Significant phenotypes
1Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal placenta vasculature | 1 supporting dataset | Esrp1em1(IMPC)Mbp | heterozygote | E15.5 | N/A * | ||
| hemorrhage | 1 supporting dataset | Esrp1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| abnormal kidney morphology | 1 supporting dataset | Esrp1em1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| decreased bone mineral density | 1 supporting dataset | Esrp1em1(IMPC)Mbp | heterozygote | Early adult | 1.97x10-5 | ||
| abnormal placenta morphology | 1 supporting dataset | Esrp1em1(IMPC)Mbp | heterozygote | E15.5 | N/A * | ||
| abnormal ovary morphology | 1 supporting dataset | Esrp1em1(IMPC)Mbp | heterozygote | Early adult | N/A * | ||
| embryonic growth retardation | 1 supporting dataset | Esrp1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| abnormal blood vessel morphology | 1 supporting dataset | Esrp1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| facial cleft | 1 supporting dataset | Esrp1em1(IMPC)Mbp | homozygote | E15.5 | N/A * | ||
| edema | 1 supporting dataset | Esrp1em1(IMPC)Mbp | homozygote | E15.5 | N/A * |
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Human diseases caused by Esrp1 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.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for Esrp1.
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| Esrp1em1(IMPC)Mbp | Exon Deletion | | mouse |
| Esrp1tm169(L1L2_gt0) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |