Table 3.

History of the main vitamin D-related genetic and acquired human diseases and animal models generated to study them.

Disease	Cause	Initial report	Animal model equivalent	Generated by
Vitamin D deficiency rickets	Lack of dietary vitamin D Lack of skin synthesis of D	F Glisson 1671 (10)	Beagle dog on oatmeal diet Lactating goat model	Mellanby 1919 (28) Steenbock & Black 1924 (30)
Vitamin D dependency rickets type 1A	Genetic defect in CYP27B1	Fraser et al. 1972 (82)	CYP27B1 null mouse	Kato 1999 (83) Panda et al. 2001 (84) St-Arnaud et al. 2003 (85)
Vitamin D dependency rickets type 1B	Genetic defect in CYP2R1	Cheng et al. 2004 (75)	CYP2R1 null mouse	Zhu et al. 2013 (86)
Vitamin D dependency rickets type 2	Genetic defect in VDR	Rosen et al. 1979 (87) Eil et al. 1981 (88)	VDR null mouse	Yoshizawa et al. 1997 (89) Li et al. 1998 (90)
Idiopathic infantile hypercalcemia	Genetic defect in CYP24A1	Lightwood 1953 (91) Schlingmann et al. 2011 (92)	CYP24A1 null mouse	St-Arnaud et al. 2000 (93)
Chronic kidney disease	Loss of Kidney CYP27B1 enzyme activity	DeLuca & Avioli 1970 (94) Brickman et al. 1974 (95)	Dog nephrectomy models	Rutherford et al. 1977 (96)