Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2).
Using an interspecific backcross, we have mapped the gene involved in the mouse Small eye mutation (SeyMH) relative to six cloned markers on chromosome 2 (Hox-5.1, Cas-1, Fshb, Bmp-2a, and ld) and the agouti locus. The results suggest that the Sey gene maps between Fshb and Cas-1. Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11. The conserved linkage of the cloned markers and the similarity of the Sey/+ and AN2/+ phenotypes suggest that the gene involved in the Sey mutation is the mouse homolog of the human AN2 gene.
van der Meer-de Jong
R
R
Department of Cell Biology, Vanderbilt University Medical School, Nashville, Tennessee 37232.
Dickinson
M E
ME
Woychik
R P
RP
Stubbs
L
L
Hetherington
C
C
Hogan
B L
BL
D000818:Animals; D015783:Aniridia / Q000235:genetics*; D002874:Chromosome Mapping; D002875:Chromosomes; D003433:Crosses, Genetic; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D009154:Mutation; D012689:Sequence Homology, Nucleic Acid