Nsmce1 | NSE1 homolog, SMC5-SMC6 complex component
Physiological systems
22 / 24 physiological systems tested
9 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Immune system Embryo Growth/size/body region Vision/eye Hematopoietic system Mortality/aging Cardiovascular system
13 No significant impact
2 Not tested
Data collections
Gene metrics:12Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| increased circulating total protein level | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | heterozygote | Early adult | 2.91x10-5 | ||
| abnormal retina morphology | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | heterozygote | Early adult | 4.68x10-5 | ||
| embryonic lethality prior to tooth bud stage | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | homozygote | E12.5 | N/A * | ||
| abnormal retina blood vessel morphology | 2 supporting datasets | Nsmce1em1(IMPC)Wtsi | heterozygote | Early adult | 1.36x10-5 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | homozygote | Early adult | N/A * | ||
| hydrometra | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | heterozygote | Early adult | N/A * | ||
| increased circulating triglyceride level | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | heterozygote | Early adult | 4.95x10-6 | ||
| abnormal embryo size | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | homozygote | E9.5 | N/A * | ||
| abnormal uterus morphology | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | heterozygote | Early adult | N/A * | ||
| embryonic growth retardation | 1 supporting dataset | Nsmce1em1(IMPC)Wtsi | homozygote | E9.5 | N/A * |
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Human diseases caused by Nsmce1 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 Nsmce1.
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| Nsmce1em1(IMPC)Wtsi | Exon Deletion | | mouse |
| Nsmce1tm47221(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |