Table 2.

An overview of the phenotypes associated with loss or gain of function of chordate Dmrt genes

Factor	Species		Loss-of-function/gain-of-function phenotypes	References
Dmrt1	Mouse	KO	Defects in germ radial migration, reactivation of mitosis and survival. Failure of Sertoli cell differentiation. Teratoma formation in fetal germ cells. Failure to control the mitosis versus meiosis decision in male germ cells. Female reprogramming in the postnatal testis. Reduction of primordial follicles in the juvenile ovary.	[22–24, 50, 51, 56]
	Medaka	M	Male-to-female sex reversal after sex determination.	[70]
(Dmy)	Medaka	M	Female development in genetic males.	[62, 65]
		GOF	Male development in genetic females. Inhibition of primordial germ cell proliferation.	[66, 110]
		KD	Loss of proliferation inhibition in primordial germ cells.	[110]
(dm-w)	Xenopus	GOF	Ovarian cavities in gonads of ZZ tadpoles overexpressing dm-w.	[71, 72]
		KD	Male development in ZW individuals.	[72]
	Chicken	KD	Feminization of gonads of embryonic males.	[74]
Dmrt2	Mouse	KO	Embryonic somite patterning and myogenic defects.	[83, 85, 111]
		GOF	Increased myogenesis.	[86]
(Dmrt2a/Terra)	Zebrafish	GOF	Increased apoptosis.	[80]
		KD	Randomization of left-sides specific genes and desynchronization of the segmentation clock.	[84]
Dmrt2b	Zebrafish	KD	Defects in somitogenesis and hedgehog signaling. Neural tube patterning defects. Randomization of left-side specific genes. Impairment of slow muscle development.	[81]
Dmrt3	Mouse	KO	Male sexual development abnormalities. Dental malocclusions.	[112]
		KO	Defects in spinal circuits involved in locomotion	[21]
	Horse	M	Defects in pattern locomotion in horses	[21]
	Xenopus	GOF	mDmrt3 promotes neurogenesis in caps.	[9]
Dmrt4	Mouse	KO	Females with polyovular follicles and male sexual development abnormalities.	[89]
	Xenopus	KD	Impaired neurogenesis in the olfactory placode.	[88]
		GOF	Promotes neurogenesis in caps.	[88]
Dmrt5	Mouse	KO	Reduced development of the caudomedial cerebral cortex.	[91, 92]
		GOF	Promotes dopamine neurons in ES cells.	[90]
		KD	Inhibition of ES cells differentiation towards a ventral medial mesencephalic cell fate.	[90]
	Xenopus	KD	Impaired neurogenesis in the olfactory placode.	[9]
		GOF	Promotes neurogenesis in caps.	[9]
	Zebrafish	M, KD	Defects in telencephalic neurogenesis.	[95]
(Dmrt1)	Ciona	M	Defects in anterior neural plate derivatives.	[100]
		KD	Impaired Six1/2, Six3/6, Meis and ZicL in the developing brain and FoxC in palps.	[99]
Dmrt7	Mouse	KO	Infertility with spermatogenic arrest in pachytene stage and sex chromatin defects.	[75, 76]

GOF gain of function, KD knockdown, KO knockout, M mutation