ZFIN Morpholino: MO2-gnptab

Target Location

Genome Build: GRCz11Chromosome: 4

Genomic Features

No data available

Expression

Gene expression in Wild Types + MO2-gnptab

No data available

Phenotype

Phenotype resulting from MO2-gnptab

Phenotype	Fish	Figures
branchiostegal ray disorganized, abnormal	y1Tg + MO2-gnptab	Fig. 2 from Flanagan-Steet et al., 2009
branchiostegal ray chondrocyte spheroid, abnormal	y1Tg + MO2-gnptab	Fig. 2 from Flanagan-Steet et al., 2009
cardiac chamber morphogenesis decreased process quality, abnormal	f1Tg/f1Tg + MO2-gnptab	Figure 2 from Lu et al., 2020
cardiac jelly spp1 expression mislocalised, abnormal	f1Tg/f1Tg + MO2-gnptab	Figure 3 from Lu et al., 2020
cardiac jelly acana expression mislocalised, abnormal	f1Tg/f1Tg + MO2-gnptab	Figure 3 from Lu et al., 2020

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Phenotype of all Fish created by or utilizing MO2-gnptab

Phenotype	Fish	Conditions	Figures
cardiac muscle cell nucleus ab1-smad labeling decreased amount, abnormal	f1Tg/f1Tg + MO2-gnptab	standard conditions	Figure 3 from Lu et al., 2020
cardiac chamber morphogenesis decreased process quality, abnormal	f1Tg/f1Tg + MO2-gnptab	standard conditions	Figure 2 from Lu et al., 2020
cardiac jelly spp1 expression spatial pattern, abnormal	f1Tg/f1Tg + MO2-gnptab	standard conditions	Figure 3 from Lu et al., 2020
heart valve malformed, abnormal	f1Tg/f1Tg + MO2-gnptab	standard conditions	Figure 2 from Lu et al., 2020
cardiac muscle cell EGFP expression spatial pattern, abnormal	f1Tg/f1Tg + MO2-gnptab	standard conditions	Figure 2 from Lu et al., 2020

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Citations

Include unpublished citations

Lu, P.N., Moreland, T., Christian, C.J., Lund, T.C., Steet, R.A., Flanagan-Steet, H. (2020) Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation. JCI insight. 5(20):
Qian, Y., van Meel, E., Flanagan-Steet, H., Yox, A., Steet, R., Kornfeld, S. (2015) Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:Lysosomal Enzyme GlcNAc-1-Phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition. The Journal of biological chemistry. 290(5):3045-56
Qian, Y., Flanagan-Steet, H., van Meel, E., Steet, R., and Kornfeld, S.A. (2013) The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module. Proceedings of the National Academy of Sciences of the United States of America. 110(25):10246-10251
Petrey, A.C., Flanagan-Steet, H., Johnson, S., Fan, X., De la Rosa, M., Haskins, M.E., Nairn, A.V., Moremen, K.W., and Steet, R. (2012) Excessive activity of cathepsin K is associated with the cartilage defects in a zebrafish model for mucolipidosis II. Disease models & mechanisms. 5(2):177-190
Flanagan-Steet, H., Sias, C., and Steet, R. (2009) Altered Chondrocyte Differentiation and Extracellular Matrix Homeostasis in a Zebrafish Model for Mucolipidosis II. The American journal of pathology. 175(5):2063-2075

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