Rare mutations in the NRXN2 gene have been identified with ASD (Gauthier et al., 2011).
Molecular Function
This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
Neurexin null mice have deficiencies is social interaction and display increased anxiety in some behavioral tasks. Increased repetitive behavior has been noted in females only, indicating some sexually dimorphic phenotypes.
References
Type
Title
Author, Year
Primary
Deletion of -neurexin II results in autism-related behaviors in mice.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
A neo cassette replaces the first exon of the Nrxn2 gene that contains the complete 5' UTR, start codon, signal peptide and the first LNS domain. Mice were backcrossed for 8 generations on to the C57BL/6NCrl background.
Allele Type: Targeted(Knockout)
Strain of Origin: 129
Genetic Background: C57BL/6NCrl or C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
To delete both alpha and beta forms of neurexin2 part of exon# 23 was deleted and the gene was interrupted between splice insert #5 in the 3' UTR, mice were maintained in the C57BL/6J background.
Allele Type: Targeted(Knockout)
Strain of Origin: 129
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source: Sudhof laboratory
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
A neo cassette replaces the first exon of the Nrxn2 gene that contains the complete 5' UTR, start codon, signal peptide and the first LNS domain. Mice were backcrossed for 8 generations on to the C57BL/6J background.
Allele Type: Targeted(Knockout)
Strain of Origin: 129
Genetic Background: C57BL/6J
ES Cell Line: Mutant ES Cell Line: Model Source:
Description: The time constants for decay were significantly increased in evoked post synaptic excitatory currents, leading to faster decay of currents
Exp Paradigm: NA
Description: Only female nrxn2 null mice show increased self grooming compared to female wild type controls. male null mice do not show an increase in self grooming compared to controls
Exp Paradigm: NA
Description: Nrxn2 null mice show reduced preference to unfamiliar stimulus mouse over an empty cage in the three-chambered social approach test
Exp Paradigm: NA
Description: Female nrxn2 null mice have reduced social approach or sociability indicated by low preference for an unfamiliar mouse in the three chamber social approach test. male nrxn2 null mice have similar sociability as wild type controls
Exp Paradigm: Females only
Description: Female nrxn2 null mice have low levels of social interaction in the reciprocal social interaction test. males perform similar to male control mice
Exp Paradigm: Females only
Description: Nrxn2 mice spend more time in the periphery of the open field compared to the control mice, take longer to cross over to from dark to light and also spend less time in the open arms of the elevated plus maze
Exp Paradigm: Light-dark exploration test
Description: Nrxn2 null mice show increased anxiety levels in the light/dark box test and in the elevated plus maze
Exp Paradigm: Light-dark exploration test
Description: Nrxn2 mice spend more time in the periphery of the open field compared to the control mice, take longer to cross over to from dark to light and also spend less time in the open arms of the elevated plus maze
Exp Paradigm: Elevated plus maze test
Description: Nrxn2 null mice show increased anxiety levels in the light/dark box test and in the elevated plus maze
Exp Paradigm: Elevated plus maze test
Description: Nrxn2 mice spend more time in the periphery of the open field compared to the control mice, take longer to cross over to from dark to light and also spend less time in the open arms of the elevated plus maze
Exp Paradigm: Open field test
Description: Nrxn2 null mice have reduced object recognition memory as they spend less time exploring a novel object compared to littermate controls
Exp Paradigm: NA
Description: There is significantly reduced expression of dlg4, parvalbumin, grin2a and stxbp1 in the hippocampus. dlg4 transcript levels were reduced in both the hippocampus and frontal cortex
Exp Paradigm: NA
Description: The time constants for decay were significantly increased in evoked post synaptic excitatory currents, leading to faster decay of currents
Exp Paradigm: NA
