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. 2020 Sep 4;107(4):727–742. doi: 10.1016/j.ajhg.2020.08.013

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© 2020 American Society of Human Genetics.

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Array of CAKUT Phenotypes Observed in a Zmym2^+/− Mutant Mouse Model

Zmym2^+/− mice heterozygous for a frameshift mutation in exon 3 were analyzed at embryonic stage E18.5 and post-natal stage P0.

(A) Percentages of mice with given CAKUT phenotype observed in Zmym2^+/− pups and their wild-type littermates. Statistical analysis was done using a binomial test. For CAKUT, hydroureter, duplex, and cystic kidneys phenotypes were compiled from Zmym2^+/+ (n = 35) and Zmym2^+/− (n = 37). Vesicoureteral reflux (VUR) was assessed from Zmym2^+/+ (n = 25) and Zmym2^+/− (n = 20). Note, some animals harbored more than one CAKUT phenotype.

(B) Dissected E18.5 and P0 urogenital system of Zmym2^+/+and Zmym2^+/− mice demonstrating gross CAKUT phenotypes including hydroureter, hydronephrosis, duplex systems, and cystic kidneys, respectively.

(C) Haemotoxylin and Eosin staining of tissue sections derived from Zmym2^+/+and Zmym2^+/− urogenital systems.

(D) Intravesical dye injection showing vesicoureteral reflux in Zmym2^+/+ and Zmym2^+/− P0 mice.

(E) Immunohistofluorescence analysis of E18.5 kidneys reveals no overt difference in cap mesenchyme and ureter tips (Pax2) nor in podocytes (podocalyxin) between Zmym2^+/+and Zmym2^+/− kidneys.