RASD1 deficient mice exhibit abnormal circadian function and may contribute to phenotypes associated with Smith-Magenis syndrome, a genomic disorder characterized by multiple congenital anomalies, intellectual disability, behavioral abnormalities, and disordered sleep resulting from a 3.7 Mb deletion in chromosome 17p11.2 (Lacaria et al., 2013).
Molecular Function
This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
.
Allele Type: Strain of Origin: Genetic Background: C57BL/6JTyrBrd
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
.
Allele Type: Strain of Origin: Genetic Background: C57BL/6JTyrBrd
ES Cell Line: Mutant ES Cell Line: Model Source:
Description: Abnormal sleep pattern indicated by decreased free-running period length after challenge with 12/12 d/d cycle
Exp Paradigm: Female mice: circadian rhythm wheel-running system entrained to 12/12 hr l/d cycle challenged with 12/12 d/d cycle
