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. 2013 Jan;54(1):20–33. doi: 10.1194/jlr.R032326

TABLE 1.

Genes involved in cholesterol-related biological processes that are essential for normal male fertility.

Gene name(synonym) Gene Product Biological Process Related to Cholesterol Reference Inbred Mouse Line or Hybrids (×)
Abca1 ATP-binding cassette, subfamily A, member 1 Cholesterol efflux, metabolic process, reverse transport (41) DBA1/J
Abcg5 ATP-binding cassette, subfamily G (WHITE), member 5 Cholesterol efflux, homeostasis, negative regulation of intestinal absorption (117) A/J
ApoB Apolipoprotein B Cholesterol homeostasis, metabolic process, transport, positive regulation of storage, regulation of biosynthetic process (118) 129S4/SvJae × C57BL/6J
Cftr Cystic fibrosis transmembrane conductance regulator Cholesterol biosynthetic process, transport (119) 129P2/OlaHsd
Crem cAMP-responsive element modulator Regulation of transcription, DNA dependent (120) 129/Sv × C57BL/6
Dhcr24 24-dehydrocholesterol reductase Cholesterol biosynthetic process, metabolic process (85) C57BL/6J × 129S5
Ehd1 EH-domain containing 1 Cholesterol homeostasis, positive regulation of storage (121) 129;B6
Lep Leptin Cholesterol metabolic process, regulation of intestinal absorption (122) C57BL/6J
Lepr Leptin receptor Cholesterol metabolic process (123) 129 × C57BL/6
Lipe Lipase, hormone-sensitive Cholesterol metabolic process (124) B6 × 129S7
Lrp8 (Apoe2) LDL receptor-related protein 8, apolipoprotein e receptor Positive regulation of CREB transcription factor activity (107) 129S6/SvEvTac
Npc1 Niemann Pick type C1 Cholesterol efflux, homeostasis MGI direct data submission 2004–2007 BALB/C
Nr1h2 (Lxrb) Nuclear receptor subfamily 1, group H, member 2 Cholesterol homeostasis, negative regulation of storage, positive regulation of efflux, positive regulation of transport (125) 129S6/SvEvTac × C57BL/6
Nr1h3 (Lxra) Nuclear receptor subfamily 1, group H, member 3 Cholesterol homeostasis, negative regulation of storage, positive regulation of efflux, positive regulation of transport and homeostasis, homeostasis of sterol (126) 129S6/SvEvTac × C57BL/6
Rxrb Retinoid X receptor β Regulation of transcription, DNA dependent (42) 129S2/SvPas
Sirt1 Sirtuin1 Cholesterol homeostasis, response to cholesterol (127) 129/Sv × 129S6/Sv

Targeted, spontaneous, or ENU-induced inactivation of these genes in mouse models results in reduced fertility or infertility in males. Data are adopted from Mouse Genome Informatics database.