Table 1.

Dosage Effects and Phenotypes Observed in Human and Mouse Mutants of Sex-Linked and Autosomal Genes Involved in Mammalian Sex Determination

	Effective Gene Dosage							Other Phenotypes
Karyotype and Genotype	SRY	SOX9	WT1	SF1	DMRT	DAX1	PhenotypicSex	Human	Mouse
46,XX:
Wild type	0	2	2	2	2	2	Female
46,XY:
Wild type	1	2	2	2	2	1	Male
SRY−	0	2	2	2	2	1	Female	Testicular dysgenesis	Not determined
SOX9−/+	1	1	2	2	2	1	Female	Campomelic dysplasia in XX and XY heterozygote	Not determined
WT1−/+	1	2	1	2	2	1	Female	Renal nephropathy, Wilms tumor in XX and XY heterozygote	Gonadal and kidney agenesis with defects in heart, lung in homozygote
SF1−/+	1	2	2	1	2	1	Female	AdrenalInsufficiency in heterozygote	Gonadal, adrenal, gonadotropic, and ventromedial-hypothalamus agenesis in homozygote
DMRT−/+a	1	2	2	2	1a	1	Female	Not determined	Not determined
Duplication of Xp21(DAX1)	1	2	2	2	2	2	Female	Not applicable	Not applicable
DAX1−	1	2	2	2	2	0	Male	Adrenal insufficiency, normal testes, sporadic hypogonadism/hypogonadotropism	Adrenal insufficiency, impaired spermatogenesis
46,XX:
DAX1−/−	1	2	2	2	2	0	Female	Adrenal insufficiency, normal ovaries	Adrenal insufficiency, normal ovaries

^aLarge deletion spanning both DMRT1 and DMRT2 (Raymond et al. 1999).