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Publication : The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse.

First Author  Kent J Year  1997
Journal  Genomics Volume  42
Issue  2 Pages  260-7
PubMed ID  9192846 Mgi Jnum  J:41221
Mgi Id  MGI:893300 Doi  10.1006/geno.1997.4706
Citation  Kent J, et al. (1997) The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse. Genomics 42(2):260-7
abstractText  We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (Sey(H)) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of Sey(H) and Sey(Dey) homozygotes. (C) 1997 Academic Press.
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