FISH

dkc1^elu1/elu1 (TU)

ID: ZDB-FISH-210218-15
Name: dkc1^elu1/elu1 (TU)
Genotype: dkc1^elu1/elu1 (TU)
Targeting Reagent

Human Disease modelled by dkc1^elu1/elu1 (TU)

Gene Expression

RNA Expression

Expressed Gene	Structure	Conditions	Figures
ccnd1	retina	standard conditions	Fig. 4 from Balogh et al., 2020
fabp2	intestine	standard conditions	Fig. 4 from Balogh et al., 2020
gata1a	blood	standard conditions	Fig. 4 from Balogh et al., 2020
prss1	pancreas	standard conditions	Fig. 4 from Balogh et al., 2020
rag1	blood	standard conditions	Fig. 4 from Balogh et al., 2020

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Protein Expression

Reporter Gene Expression

Phenotype

Citations

Include unpublished citations

Balogh, E., Chandler, J.C., Varga, M., Tahoun, M., Menyhárd, D.K., Schay, G., Goncalves, T., Hamar, R., Légrádi, R., Szekeres, Á., Gribouval, O., Kleta, R., Stanescu, H., Bockenhauer, D., Kerti, A., Williams, H., Kinsler, V., Di, W.L., Curtis, D., Kolatsi-Joannou, M., Hammid, H., Szőcs, A., Perczel, K., Maka, E., Toldi, G., Sava, F., Arrondel, C., Kardos, M., Fintha, A., Hossain, A., D'Arco, F., Kaliakatsos, M., Koeglmeier, J., Mifsud, W., Moosajee, M., Faro, A., Jávorszky, E., Rudas, G., Saied, M.H., Marzouk, S., Kelen, K., Götze, J., Reusz, G., Tulassay, T., Dragon, F., Mollet, G., Motameny, S., Thiele, H., Dorval, G., Nürnberg, P., Perczel, A., Szabó, A.J., Long, D.A., Tomita, K., Antignac, C., Waters, A.M., Tory, K. (2020) Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America. 117(26):15137-15147

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