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OMIA:001236-9823 : Nucleoside transport defect in Sus scrofa (pig)

In other species: sheep

Categories: Homeostasis / metabolism phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Defect in the transport of nucleosides (purine or pyrimidine base attached to a ribose or deoxyribose sugar) across erythrocyte (red blood cell) membranes.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:001236-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

1992 Aran, J.M., Plagemann, P.G.W. :
Nucleoside Transport-Deficient Mutants of PK-15 Pig Kidney Cell Line Biochimica et Biophysica Acta 1110:51-58, 1992. Pubmed reference: 1390836.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005