FIGURE

Fig. 2.

ID

ZDB-FIG-230518-103

Publication

Keatinge et al., 2023 - Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency

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Fig. 2.

Genetic and biochemical characterisation of the smpd1^?/? mutant zebrafish line. (A) Representative genotyping gel of the smpd1^?/? alleles (5 bp deletion and 136 bp insertion) demonstrating WT, smpd1^+/? and smpd1^?/?. (B) Acid sphingomyelinase (ASM) enzymatic activity in smpd1^?/? compared to WT controls (n=6 larvae at 5 dpf per genotype, P=0.006 by two-tailed unpaired Welch's t-test). (C) Quantification of sphingolipid metabolites, namely, sphingomyelin (Sph), dihydro-sphingomyelin (DHSph), ceramide (Cer), lactosylceramide (LacCer), sphinganine (Spgn) and sphinganine 1 phosphate (Sa1P). All metabolites shown are the C18 neuronal species. Data represented are the mean±s.d. *P<0.05; **P<0.01; ***P<0.001 (two-tailed unpaired t-test).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	smpd1^sh696/sh696
Observed In:	whole organism acid sphingomyelin phosphodiesterase activity whole organism beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide whole organism ceramide whole organism N-acylsphinganine-1-phosphocholine whole organism sphinganine whole organism sphinganine 1-phosphate whole organism sphingomyelin
Stage:	Day 5

Phenotype Detail

Acknowledgments

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