Fruit flies lacking rugose (rg), the Drosophila homologue of the mammalian and human neurobeachin, show abnormally shaped and frequently fused type I synaptic boutons and a decrease in type I synaptic bouton number. Rugose encodes an A kinase anchor protein which interacts with EGFR and Notch signaling pathways. Under conditions of low calcium, nerve-evoked EJPs (excitatory junction potentials) were abnormally large in rugose mutants indicating increase in neurotransmitter release. Weakened paired-pulse facilitation in rugose mutants also indicate reduction in short term synaptic plasticity, at similar concentrations of calcium. The number of peristaltic contractions of wandering third-instar larvae was reduced in rugose mutants indicating a locomotion defect. Habituation, a form of non-associative plasticity, was increased in rugose mutants, as measured by shorter time intervals for the giant fiber circuit to habituate in flight muscles. Adult rugose mutants also exhibit hyperactivity, decreased avoidance of stress odorant and decreased social interaction.
References
Type
Title
Author, Year
Primary
Drosophila mutants of the autism candidate gene neurobeachin (rugose) exhibit neuro-developmental disorders, aberrant synaptic properties, altered ...
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Null allele induced by P-element. P-element-induced alleles of rg were isolated by remobilizing a P element from the adjacent deadhead (dhd) locus using the delta 2-3 transposase. dhd^p2 males were mated to virgin C(1)Dx y f; Sb 2-3/ females. F2 males were screened for rough eyes. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Not reported.
Allele Type: Loss-of-function
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Null allele induced by P-element. P-element-induced alleles of rg were isolated by remobilizing a P element from the adjacent deadhead (dhd) locus using the delta 2-3 transposase. dhd^p2 males were mated to virgin C(1)Dx y f; Sb 2-3/ females. F2 males were screened for rough eyes. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by P-element. P-element-induced alleles of rg were isolated by remobilizing a P element from the adjacent deadhead (dhd) locus using the delta 2-3 transposase. dhd^p2 males were mated to virgin C(1)Dx y f; Sb 2-3/ females. F2 males were screened for rough eyes. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Null allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Null allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by gamma rays. rg allele was isolated by its failure to complement the rough eye phenotype of the hypomorphic rg^1 allele. Three- to four-day-old Canton-S (CS) males were irradiated with 1000 rad of gamma rays and mated en masse to virgin Df (1) JC70/FM7 females. F1 females with rough eyes were individually mated to FM7/Y males and maintained for several generations as a stock. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Canton-S (CS)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Hypomorphic allele induced by P-element. P-element-induced alleles of rg were isolated by remobilizing a P element from the adjacent deadhead (dhd) locus using the delta 2-3 transposase. dhd^p2 males were mated to virgin C(1)Dx y f; Sb 2-3/ females. F2 males were screened for rough eyes. From Shamloula et al., 2002, PMID 12072466.
Allele Type: Loss-of-function
Strain of Origin: Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutans displayed a more variable preferred distance, with a larger range, compared to wildtype controls.
Exp Paradigm: Distance to closest neighbor (cm)
Description: rg mutant larvae showed significantly elevated kink (i.e., the degree of larval body coiling) compared to wildtype controls. In other words, they were more likely to be in a curled position and less likely to be linear.
Exp Paradigm: angle (radians)
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed a weakened paired-pulse facilitation compared to wildtype controls. At a 100-ms inter-pulse interval rg showed no clear facilitation, at a 50-ms inter-pulse interval the facilitation of EJP amplitude was masked by the non-linear summation to the first response.
Description: rg mutant larvae showed significantly elevated kink (i.e., the degree of larval body coiling) compared to wildtype controls. In other words, they were more likely to be in a curled position and less likely to be linear.
Exp Paradigm: angle (radians)
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed significantly elevated kink (i.e., the degree of larval body coiling) compared to wildtype controls. In other words, they were more likely to be in a curled position and less likely to be linear.
Exp Paradigm: angle (radians)
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutans show significantly shorter habituation interval compared to wildtype controls. Faster habituation occured regardless of the criterion number used (i.e., number of stimuli to different failure criteria: 1, 2, 5, and 20).
Exp Paradigm: Signals were recorded from the right tergotrochanteral jump muscle and the left dorsal longitudinal a flight muscle.
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutans show significantly shorter habituation interval compared to wildtype controls.
Exp Paradigm: Signals were recorded from the right tergotrochanteral jump muscle and the left dorsal longitudinal a flight muscle.
Description: rg mutant larvae showed significantly elevated kink (i.e., the degree of larval body coiling) compared to wildtype controls. In other words, they were more likely to be in a curled position and less likely to be linear.
Exp Paradigm: angle (radians)
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed a weakened paired-pulse facilitation compared to wildtype controls. At a 100-ms inter-pulse interval rg showed no clear facilitation, at a 50-ms inter-pulse interval the facilitation of EJP amplitude was masked by the non-linear summation to the first response.
Description: rg mutans show significantly shorter habituation interval compared to wildtype controls.
Exp Paradigm: Signals were recorded from the right tergotrochanteral jump muscle and the left dorsal longitudinal a flight muscle.
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed significantly elevated kink (i.e., the degree of larval body coiling) compared to wildtype controls. In other words, they were more likely to be in a curled position and less likely to be linear.
Exp Paradigm: angle (radians)
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed significantly elevated kink (i.e., the degree of larval body coiling) compared to wildtype controls. In other words, they were more likely to be in a curled position and less likely to be linear.
Exp Paradigm: angle (radians)
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutant larvae showed abnormal type 1 bouton morphology compared to wildtype controls: boutons were less oval shaped and more oblong, however boutons
Description: rg mutans displayed a more variable preferred distance, with a larger range, compared to wildtype controls.
Exp Paradigm: Distance to closest neighbor (cm)
