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. 2016 Feb 9;12(2):e1005785. doi: 10.1371/journal.pgen.1005785

Fig 1. Mapping of ENU-generated mutation identifies a point mutation in Arhgap35 (p190A RhoGAP) that results in kidney hypodysplasia.

Fig 1

(A) The ENU-mutant line D34 shows exencephaly and spina bifida (open arrowheads), concomitant with kidney hypodysplasia (brackets) at E17.5. (B) Single nucleotide polymorphism (SNP)-array screening of 76 embryos identifies a single significant region on chromosome 7 associated with kidney hypodysplasia using algorithms EM [black], Haley-Knott [blue] and Multiple Imputation [red]. Significance threshold is indicated by horizontal line for each algorithm. (C) Restriction fragment length polymorphism analysis between the wild type C3H/HeNCrl and mutated C57BL/6J strains using marker rs31200925 (N = 346 embryos) confirms the association with kidney hypodysplasia. (D) Sanger sequencing of the Arhgap35 A to T sequence variant identified by exome sequencing reveals a strong association with kidney hypodysplasia (N = 59 embryos).