This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
The protein encoded by this gene is expressed in the brain, localizes to the postsynaptic density, and interacts with a number of ASD-associated proteins, including DLG1, DLG4, SHANK1, SHANK2 and SHANK3.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
Dlgap1 KO mice showed disrupted protein interactions in the postsynaptic density, and deficits in sociability. Ambulation, rearing, anxiety, depression, locomotion, startle response and nest building were largely unaffected. Induced grooming and exploration activity were decreased (Coba MP, et al, Sci. Rep., 2018).
References
Type
Title
Author, Year
Primary
Dlgap1 knockout mice exhibit alterations of the postsynaptic density and selective reductions in sociability.
Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Mice harboring a homozygous null mutation of the DLGAP1 allele. (No other information reported). .
Allele Type: Knockout
Strain of Origin: Not reported
Genetic Background: 129*C57BL/6 J
ES Cell Line: Not reported
Mutant ES Cell Line: Not reported
Model Source: Dr. Seth Grant at Edinburgh University.
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Mice harboring a heterozygous null mutation of the DLGAP1 allele. (No other information reported). .
Allele Type: Knockout
Strain of Origin: Not reported
Genetic Background: 129*C57BL/6 J
ES Cell Line: Not reported
Mutant ES Cell Line: Not reported
Model Source: Dr. Seth Grant at Edinburgh University.
Model Type:
Genetic LOF
Model Genotype:
Homozygous
Mutation:
Mutant mice have dlgap1 exon 4 replaced with a selection cassette that creates a frameshift between exons 4 and 5. 795bp of dlgap1 genomic dna (x70662625 to x70663420; ensemble build 68) is replaced with ires-lacz-neo cassette.
Allele Type: Knockout
Strain of Origin: C57BL/6*129S5
Genetic Background: C57BL/6*129S5
ES Cell Line: E14TG2a
Mutant ES Cell Line: E14TG2a
Model Source: University of Edinburgh
Model Type:
Genetic LOF
Model Genotype:
Heterozygous
Mutation:
Mutant mice have dlgap1 exon 4 replaced with a selection cassette that creates a frameshift between exons 4 and 5. 795bp of dlgap1 genomic dna (x70662625 to x70663420; ensemble build 68) is replaced with ires-lacz-neo cassette.
Allele Type: Knockout
Strain of Origin: C57BL/6*129S5
Genetic Background: C57BL/6*129S5
ES Cell Line: E14TG2a
Mutant ES Cell Line: E14TG2a
Model Source: University of Edinburgh
Description: Dlgap1 ko mice showed a longer latency to groom compared to either wt or ht mice. male dlgap1 ko mutants had fewer grooming bouts than hts. male hts had longer grooming bouts than female hts.
Exp Paradigm: NA
Description: Male mutants spent less time in the chamber with the unfamiliar mouse compared to controls. male mutants spent less time rearing around the unfamiliar stimulus mouse compared to controls. dlgap1 ko females sniffed the stimulus mouse less than dlgap1 ko males.
Exp Paradigm: NA
Description: Male mutants show an increased latency to dig compared to male wt mice. mutant male dlgap1 ko mice had longer latencies to dig than female ko mice. both male and female dlgap1 ko mice exhibiting fewer digging bouts than wt mice. mutants show no change in total time spent digging or average bout duration compared to controls.
Exp Paradigm: Latency to dig, total time digging, number of bouts digging, and average bout duration were measured.
Description: Male mutants spent less time in the chamber with the unfamiliar mouse compared to controls. male mutants spent less time rearing around the unfamiliar stimulus mouse compared to controls.
Exp Paradigm: NA
