Asphd1 | aspartate beta-hydroxylase domain containing 1
Physiological systems
22 / 24 physiological systems tested
10 Significantly impacted by the knock-out
Homeostasis/metabolism Immune system Endocrine/exocrine gland Growth/size/body region Limbs/digits/tail Vision/eye Hematopoietic system Skeleton Craniofacial Cardiovascular system
12 No significant impact
2 Not tested
Data collections
Gene metrics:9Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal thymus morphology | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| enlarged thymus | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| abnormal tail morphology | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | 1.79x10-6 | ||
| abnormal eye morphology | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| decreased circulating alkaline phosphatase level | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | 9.7x10-5 | ||
| increased circulating creatinine level | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | 6.28x10-5 | ||
| abnormal tooth morphology | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| microphthalmia | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| decreased heart rate | 1 supporting dataset | Asphd1em1(IMPC)Ccpcz | homozygote | Early adult | 2.13x10-5 |
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Human diseases caused by Asphd1 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 Asphd1.
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| Asphd1em1(IMPC)Ccpcz | Intra-exon deletion | | mouse |
| Asphd1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell |
| Asphd1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Asphd1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |