High impact information on Col18a1

• Mouse Col18a1 is expressed in a tissue-specific manner as three alternative variants and is localized in basement membrane zones [1].
• We show here that in a specific C57BL background, 20% of the Col18a1(-/-) mice developed hydrocephalus, and dilation of the brain ventricles was observed by MRI in all of the mutant mice [2].
• CONCLUSIONS: The abnormalities in the iris and ciliary body of Col18a1(-/-) mice demonstrate an important role of collagen XVIII for the function of ocular BMs [3].
• The mouse gene for the alpha 1 chain of type XVIII collagen (Col18a1) is more than 102 kb and consists of 43 exons [4].
• In addition, using an interspecific backcross panel, we have shown that the murine Col18a1 locus is on chromosome 10, close to the loci for Col6a1 and Col6a2 [5].

Biological context of Col18a1

• Based upon genomic nucleotide sequencing, the RFC-1 gene in the normal mouse genome was localized to chromosome 10 in close association with the alpha 1 (Col18a1) collagen gene at 10B3(locus 41cM) [6].
• Endothelial cells sprouting from Col18a1(-/-) aortas were increased compared with heterozygote and wild-type aortas [7].

Anatomical context of Col18a1

• We observed a marked increase in the amount of retinal astrocytes in the Col18a1-/- mice [8].
• Whereas the retinal vessels of wild-type mice are covered by astrocytes and the regressing, thin hyaloid vessels are devoid of astrocytes, the retinal vessels in the Col18a1-/- mice were similarly covered by astrocytes but not the persistent hyaloid vessels in the vitreous body [8].

Other interactions of Col18a1

• With fiber-FISH, Col18a1, Col6a1, and Col6a2 were shown to be in a head-to-tail configuration with respective intergenic distances of about 350 kb and 90 kb [9].
• We also used MSCs to determine the transcriptional orientations, telomere--5'-->3'--centromere, of both Col13a1 and Col18a1 [9].
• METHODS AND RESULTS: To test our hypothesis, we bred collagen XVIII-knockout (Col18a1(-/-)) mice into the atherosclerosis-prone apolipoprotein E-deficient (ApoE(-/-)) strain [7].

Analytical, diagnostic and therapeutic context of Col18a1

• METHODS: Eyes of Col18a1(-/-) and control mice were examined by light and transmission electron microscopy, laser scanning ophthalmoscopy, and fluorescence angiography [3].

References