Article
A trans-acting protein effect causes severe eye malformation in the Mp mouse.
PLoS genetics - 1 Jan 2013
Rainger Joe, Keighren Margaret, Keene Douglas R, Charbonneau Noe L, Rainger Jacqueline K, Fisher Malcolm, Mella Sebastien, Huang Jeffrey T-J, Rose Lorraine, van't Hof Rob, Sakai Lynne Y, Jackson Ian J, Fitzpatrick David R
Abstract excerpt
Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1. The Isoc1-Fbn2 fusion gene (Isoc1(Mp)) mRNA has a frameshift and early stop codon resulting in nonsense mediated decay. Homozygous deletions of Isoc1 do...
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