Enpp1 | ectonucleotide pyrophosphatase/phosphodiesterase 1
Physiological systems
22 / 24 physiological systems tested
12 Significantly impacted by the knock-out
Reproductive system Immune system Endocrine/exocrine gland Integument Growth/size/body region Limbs/digits/tail Respiratory system Hematopoietic system Behavior/neurological Skeleton Cardiovascular system Craniofacial
10 No significant impact
2 Not tested
Data collections
Gene metrics:30Significant phenotypes
9Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| increased airway resistance | 3 supporting datasets | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 4.89x10-10 | ||
| abnormal vertebrae morphology | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 8.58x10-15 | ||
| abnormal scapula morphology | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 6.82x10-20 | ||
| abnormal skin coloration | 2 supporting datasets | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 6.92x10-11 | ||
| abnormal startle reflex | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 4.32x10-6 | ||
| abnormal gait | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 6.68x10-13 | ||
| decreased body weight | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 2.42x10-6 | ||
| enlarged spleen | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| abnormal sinus arrhythmia | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 4.35x10-9 | ||
| vertebral fusion | 1 supporting dataset | Enpp1em1(IMPC)Ccpcz | homozygote | Early adult | 1.39x10-14 |
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Human diseases caused by Enpp1 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 Enpp1.
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| Enpp1em1(IMPC)Ccpcz | Exon Deletion | | mouse |
| Enpp1tm380784(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |
| KO first allele (reporter-tagged insertion with conditional potential) | | ES Cell |