Disease relevance of Col11a1

• In contrast to the conclusion of a previous report, our results indicate that Col11a1 haploinsufficiency does not cause significant hearing loss on the C57BL/6 strain background [1].
• Chondrodysplasia (cho) is a functional null allele of Col11a1 that causes lethal chondrodysplasia in cho/cho newborn mice, and osteoarthritis in cho/+ heterozygotes [1].
• Here, cleft palate in mice carrying the chondrodysplasia (cho) defect, which consists of an autosomal-recessive mutation in the collagen gene Col11a1, was investigated [2].

High impact information on Col11a1

• A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis [3].
• Like other vertebrate species, the mutually exclusive expression of exons 6A and 6B of Col11a1 results in the inclusion in the alpha1 chain of either an acidic peptide (pI 3.14) or a basic peptide (pI 11.66) [4].
• Here we report the analysis of the alternative splicing pattern of the mouse alpha1(XI) collagen gene (Col11a1) [4].
• Transcripts of the Col11a1 gene were detected as early as 11 days of gestation [5].
• OBJECTIVE: To determine in articular cartilage whether degraded type II collagen is more abundant in Col11a1 mutant cho/+ than in age-matched +/+ mice and whether collagen degradation occurs in a generalized or localized fashion [6].

Biological context of Col11a1

• To determine if Col11a1 haploinsufficiency causes hearing loss in cho/+ mice, auditory brainstem response (ABR) thresholds were measured at 2, 4, 6, 8 and 10 months of age [1].
• Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype [7].

Anatomical context of Col11a1

• The greater epithelial ridge appeared to be the main, if not only, source of mRNA encoding Col11a1 and Col11a2 in the tectorial membrane [7].
• RESULTS: Similar, diffuse expression of Col11a1 and Col11a2 mRNA was first observed in the cochlear duct at embryonic Day 15.5, with increasingly focal hybridization being noted at postnatal Days 1 and 5 in the greater epithelial ridge and lateral wall of the cochlea [7].

Other interactions of Col11a1

• At postnatal Day 13, Col11a1 and Col11a2 expression became more focal and co-localized in the inner sulcus, Claudius' cells and cells of Boettcher [7].

Analytical, diagnostic and therapeutic context of Col11a1

• The present study was undertaken to elucidate the embryonic pattern of expression of the gene coding for the mouse alpha 1 chain of type XI colagen (Col11a1) using the technique of in situ hybridization [5].

References