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Your search keyword '"Jacinto, Joana G. P."' showing total 7 results
Start Over Author "Jacinto, Joana G. P." Journal animal genetics
7 results on '"Jacinto, Joana G. P."'

7. A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis.

Author

Jacinto, Joana G. P., Häfliger, Irene M., Gentile, Arcangelo, Drögemüller, Cord, and Bolcato, Marilena

Subjects
*DELETION mutation, *CALVES, *HOLSTEIN-Friesian cattle, *GENES
Abstract

The deletion spanning 19 coding exons of the I COL2A1 i gene was subsequently evaluated by performing a multiplex PCR across both breakpoints, revealing an additional PCR product only in the affected calf (Fig. The I COL2A1 i gene has a probability of loss-of-function intolerance score of 1, meaning that it clearly falls into the class of loss-of-function haploinsufficient genes.11 Consequently, the observed phenotype could be explained by the non-expression of the mutant allele. This report presents another large structural variant affecting the I COL2A1 i gene causing a novel form of bovine achondrogenesis type II that occurred in combination with the perosomus elumbis (PE) phenotype (OMIA 000789-9913). [Extracted from the article]

Published
2021
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