Edinburgh Research Explorer

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

Research output: Contribution to journalArticle

Related Edinburgh Organisations

Original languageEnglish
Pages (from-to)260-7
Number of pages8
Issue number2
Publication statusPublished - 1997


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 (SeyH) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes.

    Research areas

  • Abnormalities, Multiple, Animals, Aniridia, Base Sequence, Calcium-Binding Proteins, Chromosome Mapping, Chromosomes, Human, Pair 11, DNA Primers, DNA-Binding Proteins, Eye Abnormalities, Eye Proteins, Gene Deletion, Genes, Wilms Tumor, Homeodomain Proteins, Homozygote, Humans, In Situ Hybridization, Fluorescence, Kidney Neoplasms, Male, Mental Retardation, Mice, Paired Box Transcription Factors, Polymerase Chain Reaction, Repressor Proteins, Species Specificity, Syndrome, Urogenital Abnormalities, Wilms Tumor

ID: 464032