A de novo loss-of-function (LoF) variant in the PLXNB1 gene was first identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). A second ASD-associated de novo LOF variant was identified in a proband from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017.
Molecular Function
Receptor for SEMA4D. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
PlexB-Gal4 driver line expressing UAS-PlexB-RNAi.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
PlexB-Gal4 driver line expressing UAS-PlexB-RNAi.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source:
Description: When challenged in the light-off jump paradigm, the mutants' initial jump response was impaired (11% frequency of initial jumping), thus precluding proper assessment of habituation.
Description: When challenged in the light-off jump paradigm, the mutants' initial jump response was impaired (42% frequency of initial jumping), thus precluding proper assessment of habituation.
