A paternally-inherited deletion disrupting seven exons of the DAGLA gene was identified in a male ASD proband and an affected male sibling; however, this deletion was also observed in an unaffected male sibling but was not observed in controls (Prasad et al., 2012).
Molecular Function
This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Viral mediated targeted deletion of diacylglycerol lipase , DGL from dopamine D1 receptor-expressing or adenosine A2a receptor-expressing medium spiny neurons (MSNs) constituting the direct pathway shows decreased social interaction, increased grooming, decreased exploration of a novel environment and increased glutamatergic transmission. DGLa CKOs of the indirect pathway shows unaltered social interaction, grooming and exploration of a novel environment. Subregional DGL deletion from the dorsal striatum decreased social interaction. Subregional DGLalpha deletion from the ventral striatum increased repetitive grooming (Shonesy BC, Biol Psychiatry. 2017).
References
Type
Title
Author, Year
Primary
Role of Striatal Direct Pathway 2-Arachidonoylglycerol Signaling in Sociability and Repetitive Behavior.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 9 of the DGLa gene using Drd1a-cre (D1-cre), in medial spiny neurons (MSNs) and other neurons.
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: C57Bl/6J
ES Cell Line: Mutant ES Cell Line: Model Source: Drd1a-Cre mice were generated by the Gene Expression Nervous System Atlas Project (New York, NY).
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 9 of the DAGLA gene using Adora2a-Cre (A2a-Cre), in medium spiny neurons (MSNs) of striatal indirect pathway (striatopallidal) expressing adenosine-2a receptor, that are also known to express dopamine receptor 2 (Drd2) . The line was further crossed with Drd1a-tdTomato mice for electrophysiology experiments
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: C57Bl/6J
ES Cell Line: Mutant ES Cell Line: Model Source: Adora2a-Cre mice were generated by the Gene Expression Nervous System Atlas Project (New York, NY).
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 9 of the DAGLA gene by bilateral injection of AAV-cre into the dorsal striatum
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: C57Bl/6J
ES Cell Line: Mutant ES Cell Line: Model Source: 29458998
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Conditional deletion of exon 9 of the DAGLA gene by bilateral injection of AAV-cre into the nucleus accumbens of the ventral straitum
Allele Type: Conditional loss-of-function
Strain of Origin: Genetic Background: C57Bl/6J
ES Cell Line: Mutant ES Cell Line: Model Source: 29458998
Description: Mutants show decreased percentage maximum depolarizaton-induced suppresion of excitation (dse) compared to controls.
Exp Paradigm: Depolarization-induced suppression of excitation (dse). depolarization-induced suppression of excitation (dse) was recorded from drd1a-tdtomato fluorescent striatal dmsns from dglad1-cre1/drd1a-tdtomato1 mice.
Description: Mutants show decreased striatal levels of 2-arachidonoylglycerol (2-ag) compared to controls.
Exp Paradigm: The effect of dgla deletion from drd1a-cre (d1-cre)expressing striatal msns (dmsns) on striatal levels of 2-arachidonoylglycerol (2-ag). endocannabinoids (ecbs) and related lipids were detected from mouse striatal punches using multiple reaction monitoring with a mass spectrometer in tandem with ultrahigh performance liquid chromatography.
Description: Mutants show decreased percentage maximum depolarizaton-induced suppresion of excitation (dse) compared to controls.
Exp Paradigm: Dse recorded from drd1a-tdtomato2 striatal imsns from dgla^a2a-cre1, drd1a-tdtomato1 mice and their dglaflx/flx/drd1a-tdtomato1 littermates.
