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Updated: May 15, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Identification of a new allele of catp-4
Anushree Gurjar1, Amber R Krauchunas1
1Biological Sciences, University of Delaware, Newark, Delaware, United States.
Abstract:
CATP-4 is a subunit of a Na + /K + -ATPase important for sperm motility and fertility. Here, we report the characterization of a new allele of catp-4 isolated from a forward genetic screen for sterile mutants. The catp-4 ( as46 ) allele has a missense mutation that substitutes a highly conserved Glycine which lies close to an ATP binding site. This mutation results in a loss-of-function phenotype comparable to that of the catp-4 null alleles, emphasizing the importance of this residue for CATP-4 function. This is for the first time that a phenotype has been reported for a single missense mutation in the catp-4 gene.
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