FIGURE

Fig. 6

ID

ZDB-FIG-240426-77

Publication

Redfield et al., 2024 - PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

Other Figures

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Fig. 6

Minigene splicing assay for evaluation of the functional effect of p.(Gly605Arg) on splicing. a Schematic demonstrating designed minigene assay including CMV promotor, variant location, and primers. b Schematic showing calculated size of the fragment with exon 17 included (533 bp) or excluded (389 bp). c, d RT-PCR result from HEK293 and HeLa cells transfected with both WT and mutant plasmids showing different fragment lengths as well as sequence on chromatogram demonstrating lack of incorporation of exon 17 in cells transfected with the mutant plasmid, leading to in-frame deletion of 48 amino acids (p.Val557_Arg604del) using the NCBI NP_803875.2 as a reference sequence

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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