Ctsh | cathepsin H
Physiological systems
18 / 24 physiological systems tested
2 Significantly impacted by the knock-out
Vision/eye Skeleton
16 No significant impact
6 Not tested
Data collections
Gene metrics:6Significant phenotypes
1Associated diseases
Expression examined in:50Adult tissues
0Embryo tissues
| decreased total retina thickness | 1 supporting dataset | Ctshtm1b(KOMP)Wtsi | homozygote | Early adult | 3.23x10-5 | ||
| abnormal eye anterior chamber depth | 1 supporting dataset | Ctshtm1b(KOMP)Wtsi | homozygote | Early adult | 2.1x10-5 | ||
| abnormal retina inner nuclear layer morphology | 1 supporting dataset | Ctshtm1b(KOMP)Wtsi | homozygote | Early adult | 8.79x10-6 | ||
| increased bone mineral density | 1 supporting dataset | Ctshtm1b(KOMP)Wtsi | homozygote | Early adult | 2.9x10-6 | ||
| abnormal retina outer nuclear layer morphology | 1 supporting dataset | Ctshtm1b(KOMP)Wtsi | homozygote | Early adult | 2.1x10-6 | ||
| increased bone mineral content | 2 supporting datasets | Ctshtm1b(KOMP)Wtsi | homozygote | Early adult | 2x10-5 |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
| aorta | heterozygote | Wholemount images | 100% (2/2) | 0.19% (1/533) |
| bone | heterozygote | n/a | 0% (0/2) | 0% (0/394) |
| brain | heterozygote | Wholemount images | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | Wholemount images | 50% (1/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 0% (0/2) | 0.22% (1/454) |
| cerebellum | heterozygote | n/a | 0% (0/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | Wholemount images | 50% (1/2) | 0.41% (2/491) |
| esophagus | heterozygote | n/a | 0% (0/2) | 1.67% (7/419) |
Human diseases caused by Ctsh 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 Ctsh.
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| Ctshtm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Ctshtm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Ctshtm1e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |
| Ctshtm42823(L1L2_st0) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |