1

Supplementary Table 1 Mutation phenotypes of five . The relevant references are given within parentheses.

Gene Human phenotype Human mutation Mouse (heterozygous) Gross deletion phenotype Early (heterozygous) truncating mutation Pax2/PAX2 Papillorenal syndrome Reported (1) Reported (2) Affected (3) Pax3/PAX3 Reported (4) Reported (5) Affected (6) Pax6/PAX6 Aniridia Reported (7) Reported (8) Affected (9) Pax8/PAX8 Congenital hypothyroidism Not reported Not reported Unaffected Pax9/PAX9 Tooth agenesis Reported (10) Reported (11) Unaffecteda aHomozygous hypomorphic Pax9 mutant mice have disease phenotypes (12) (i.e. gene dosage effect).

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