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. 2021 Jul 1;53(7):1109–1115. doi: 10.1038/s12276-021-00644-5

Table 1.

Metabolic phenotypes of hypothalamic primary cilia dysfunction.

Gene Mutation Target area Metabolic phenotype Ref.
Structural defect
Ift88 (Tg737) CAGG-creER::Ift88loxP Global KO Hyperphagic-induced obesity, hyperleptinemia, hyperinsulinemia, hyperglycemia [9]
Syn1-cre::Ift88loxP Neurons Hyperphagia-induced obesity, hyperleptinemia, hyperglycemia [9, 64]
POMC-cre::Ift88loxP POMC neurons
POMC-creER::Ift88loxP No change [64]
LepRb-cre::Ift88loxP LepRb-expressing neurons Mild obesity, decreased energy expenditure, minimal leptin resistance [62]
SF1-cre::Ift88loxP SF-1 neurons Obesity, decreased energy expenditure, leptin resistance, hyperinsulinemia, hyperglycemia, high bone density [41]
Kif3a CAGG-creER::Kif3aloxP Global KO Hyperphagic-induced obesity, hyperleptinemia, hyperinsulinemia, hyperglycemia [9, 64]
POMC-cre::Kif3aloxP POMC neurons
Functional defect
Adcy3 Adcy3null/null Global KO Obesity, insulin resistance [57]
AAV-Cre::Adcy3loxP VMH Obesity, hyperphagia [77] [62]
Bbs1 Nestin-cre::Bbs1loxP CNS Obesity, hyperphagia
LepRb-cre::Bbs1loxP LepRb-expressing neurons Obesity, hyperphagia, decreased energy expenditure, leptin resistance
POMC-cre::Bbs1loxP POMC neurons Obesity, hyperphagia, hyperglycemia, insulin resistance [70]
AgRP-cre::Bbs1loxP AgRP neurons Obesity, hyperinsulinemia
Bbs2, Bbs4, Bbs6 Bbs2null/null, Bbs4null/null, and Bbs6 null/null Global KO Obesity, hyperphagia, hypertension, leptin resistance [69]
Mc4r SIM1-cre::Mc4rpPro230Leu Sim1 neurons Obesity [75]
GPR88 SIM1-cre::AAV-GPR88* Sim1 neurons Obesity

*G protein-coupled receptor 88