Diversity of Human Clock Genotypes and Consequences - Progress in Molecular Biology and Translational Science - page 71

Phenotype of mutant mouse
model Gene Human phenotype associated

BMAL1 Type 2 diabetes and hypertension Hypoinsulinemia and diabetes

Prostate cancer
Seasonal affective disorder
Number of pregnancies and
miscarriages

Infertility

Alcohol consumption

CLOCK Eveningness preference Circadian phenotype

Altered sleep Reduced sleep

Bipolar disorder, schizophrenia,
attention deficit hyperactivity
disorder, and fluvoxamine response
in major depressive disorder patients

Mania-like behavior

Metabolic traits, hypertension, and
nonalcoholic fatty liver disease

Obesity and metabolic
syndromes

Prostate cancer, breast cancer, and
survival rate of colorectal cancer

NPAS2 Daily timing and sleepiness Reduced sleep and enhanced

light entrainment

Seasonal affective disorder and
depression
Autistic disorder
Chronic fatigue syndrome
Number of miscarriages
Non-Hodgkin's lymphoma,
prostate cancer, and breast cancer

PER1 Extreme morning preference Circadian phenotype

Alcohol consumption under
psychosocial stress

Increased alcohol consumption
in response to social defeat

Prostate cancer
Autistic disorder

PER2 Familial advanced sleep phase Phase advance during light/

dark cycle and shorter free-
running period

Morningness preference
Duration of sleep (nurses on
day shift)
Depression
Reduced activity in medial frontal
cortex of adolescents

Hypersensitized response to
cocaine and strong cocaine-
induced place preference

Metabolic traits
Alcohol consumption

Increased alcohol consumption

Seasonal affective disorder
Prostate cancer and breast cancer