Ptchd1 | patched domain containing 1
Physiological systems
18 / 24 physiological systems tested
7 Significantly impacted by the knock-out
Homeostasis/metabolism Immune system Growth/size/body region Hearing/vestibular/ear Hematopoietic system Behavior/neurological Skeleton
11 No significant impact
6 Not tested
Data collections
Gene metrics:14Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| decreased erythrocyte cell number | 1 supporting dataset | Ptchd1tm1b(KOMP)IcsOrl | homozygote | Early adult | 5.03x10-5 | ||
| hyperactivity | 9 supporting datasets | Ptchd1tm1b(KOMP)IcsOrl | homozygote | Early adult | 1.58x10-12 | ||
| hyperactivity | 7 supporting datasets | Ptchd1tm1b(KOMP)IcsOrl | hemizygote | Early adult | 2.76x10-13 | ||
| increased exploration in new environment | 1 supporting dataset | Ptchd1tm1b(KOMP)IcsOrl | hemizygote | Early adult | 5.15x10-7 | ||
| increased vertical activity | 1 supporting dataset | Ptchd1tm1b(KOMP)IcsOrl | hemizygote | Early adult | 2.27x10-13 | ||
| increased lean body mass | 1 supporting dataset | Ptchd1tm1b(KOMP)IcsOrl | hemizygote | Early adult | 9.78x10-5 | ||
| abnormal cued conditioning behavior | 1 supporting dataset | Ptchd1tm1b(KOMP)IcsOrl | homozygote | Early adult | 3.33x10-5 | ||
| abnormal auditory brainstem response | 2 supporting datasets | Ptchd1tm1b(KOMP)IcsOrl | hemizygote | Early adult | 7.59x10-9 | ||
| increased aggression | 1 supporting dataset | Ptchd1tm1b(KOMP)IcsOrl | hemizygote | Early adult | 3.38x10-6 | ||
| increased circulating creatinine level | 1 supporting dataset | Ptchd1tm1b(KOMP)IcsOrl | homozygote | Early adult | 5.02x10-5 |
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Human diseases caused by Ptchd1 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 Ptchd1.
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| Ptchd1tm1a(KOMP)IcsOrl | KO first allele (reporter-tagged insertion with conditional potential) | | mouse |
| Ptchd1tm1b(KOMP)IcsOrl | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Ptchd1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |
| Ptchd1tm94175(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |
| Ptchd1tm94175(L1L2_Pgk_P) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |