Hps6 | HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Physiological systems
18 / 24 physiological systems tested
10 Significantly impacted by the knock-out
Immune system Pigmentation Integument Endocrine/exocrine gland Growth/size/body region Vision/eye Hematopoietic system Behavior/neurological Skeleton Cardiovascular system
8 No significant impact
6 Not tested
Data collections
Gene metrics:13Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| mydriasis | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | 3.75x10-11 | ||
| abnormal coat/hair pigmentation | 3 supporting datasets | Hps6em1(IMPC)Tcp | homozygote | Early adult | 2x10-19 | ||
| abnormal retina vasculature morphology | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | 3.45x10-7 | ||
| hyperactivity | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | 4.98x10-5 | ||
| small thymus | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| decreased body length | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | 1.18x10-6 | ||
| small spleen | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| abnormal retina blood vessel morphology | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | 3.86x10-7 | ||
| abnormal skin morphology | 2 supporting datasets | Hps6em1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| abnormal eye morphology | 1 supporting dataset | Hps6em1(IMPC)Tcp | homozygote | Early adult | N/A * |
| | | | | | | | | | |
Human diseases caused by Hps6 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.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for Hps6.
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
| Hps6em1(IMPC)Tcp | Intra-exon deletion | | mouse |
| Hps6tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Hps6tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | | ES Cell |