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No Human Gene Data Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
12
Duplication
 1
 
12
Deletion
 1
 

Model Summary

Gp93 mutant larvae showed aberrant innervation patterns of type III axons in muscle 13 (M13) neuromuscular junctions as well as significant downregulation of rl and Fas2 expression.

References

Type
Title
Author, Year
Primary
MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions.

F_GP93_1_KD_GP93^EY06213

Model Type: Genetic
Model Genotype: Homozygous
Mutation: dsRNA for RNAi of Gp93 (FBgn0039562) under UAS control.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_GP93_2_KD_RNAI

Model Type: Genetic
Model Genotype: Homozygous
Mutation: RNAi-based knockdown of Gp93 gene.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_GP93_1_KD_GP93^EY06213

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic morphology1
Abnormal
Description: Gp93 mutant larvae showed aberrant innervation patterns of type III axons in muscle 13 (M13) neuromuscular junctions compared to controls.
 Confocal microscopy
 larval stage
Gene expression1
Decreased
Description: Gp93 mutants show significant downregulation of rl transcript expression compared to wildtype controls.
 Quantitative pcr (qrt-pcr)
 Unreported
Gene expression1
Decreased
Description: Gp93 mutants show significant downregulation of Fas2 transcript expression compared to wildtype controls.
 Quantitative pcr (qrt-pcr)
 larval stage
Protein localization: synapse1
 No change
 Immunostaining
 larval stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_GP93_2_KD_RNAI

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic morphology1
 No change
 Confocal microscopy
 larval stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

 

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