FISH

tp53^zdf1/zdf1; fam50a^{ck125a/ck125a}

ID: ZDB-FISH-220311-9
Name: tp53^zdf1/zdf1; fam50a^{ck125a/ck125a}
Genotype: tp53^zdf1/zdf1; fam50a^{ck125a/ck125a}
Targeting Reagent

Human Disease modelled by tp53^zdf1/zdf1; fam50a^{ck125a/ck125a}

No data available

Gene Expression

RNA Expression

Expressed Gene	Structure	Conditions	Figures
eftud2	head	standard conditions	Fig. S18 from Lee et al., 2020
prpf31	head	standard conditions	Fig. S18 from Lee et al., 2020

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Protein Expression

Reporter Gene Expression

Phenotype

Citations

Include unpublished citations

Lee, Y.R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N.A., Pardo, M., Yu, L., Norris, J.W., Peng, Y., Gripp, K.W., Aleck, K.A., Li, C., Spence, E., Choi, T.I., Kwon, S.J., Park, H.M., Yu, D., Do Heo, W., Mooney, M.R., Baig, S.M., Wentzensen, I.M., Telegrafi, A., McWalter, K., Moreland, T., Roadhouse, C., Ramsey, K., Lyons, M.J., Skinner, C., Alexov, E., Katsanis, N., Stevenson, R.E., Choudhary, J.S., Adams, D.J., Kim, C.H., Davis, E.E., Schwartz, C.E. (2020) Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications. 11:3698

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