Col18a1 | collagen, type XVIII, alpha 1
Physiological systems
17 / 24 physiological systems tested
6 Significantly impacted by the knock-out
Homeostasis/metabolism Pigmentation Nervous system Vision/eye Behavior/neurological Cardiovascular system
11 No significant impact
7 Not tested
Data collections
Gene metrics:15Significant phenotypes
3Associated diseases
Expression examined in:48Adult tissues
50Embryo tissues
| abnormal retina blood vessel morphology | 2 supporting datasets | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 2.24x10-15 | ||
| hyperactivity | 2 supporting datasets | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 3.87x10-5 | ||
| abnormal optic disk morphology | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 2.2x10-12 | ||
| abnormal lens morphology | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 5.27x10-5 | ||
| abnormal iris pigmentation | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 1.14x10-16 | ||
| irregularly shaped pupil | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 4.6x10-8 | ||
| abnormal retina morphology | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 9.8x10-5 | ||
| abnormal retina vasculature morphology | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 5.61x10-17 | ||
| decreased circulating glucose level | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 3.94x10-5 | ||
| increased fasting circulating glucose level | 1 supporting dataset | Col18a1tm1.1(KOMP)Vlcg | homozygote | Early adult | 2.49x10-5 |
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| adrenal gland | heterozygote | Section images | 100% (2/2) | 0.7% (4/570) |
| aorta | heterozygote | Section images | 100% (2/2) | 0.19% (1/533) |
| brain | heterozygote | Section images | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | Section images | 100% (2/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | Section images | 100% (2/2) | 0.22% (1/454) |
| cerebellum | heterozygote | Section images | 100% (2/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | Section images | 100% (2/2) | 0.41% (2/491) |
| epididymis | heterozygote | Section images | 100% (1/1) | 87.5% (21/24) |
| esophagus | heterozygote | Section images | 100% (2/2) | 1.67% (7/419) |
Human diseases caused by Col18a1 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 Col18a1.
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| Col18a1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell mouse |
| Col18a1tm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | | mouse |
| Col18a1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Col18a1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |