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Relevance to Autism

Significant reduction of Dab-1 mRNA was seen in superior frontal and cerebellar areas of autistic brains compared to control brains (Fatemi et al., 2005).

Molecular Function

DAB1 serves as an intracellular adaptor for reelin signaling pathway

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Reelin signaling is impaired in autism.
ASD
Support
Mice with Dab1 or Vldlr insufficiency exhibit abnormal neonatal vocalization patterns.
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation.
Highly Cited
Neuronal position in the developing brain is regulated by mouse disabled-1.
Recent Recommendation
Relative importance of the tyrosine phosphorylation sites of Disabled-1 to the transmission of Reelin signaling.
Recent Recommendation
Differential interaction of the Pafah1b alpha subunits with the Reelin transducer Dab1.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN057R001 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Deletion-Duplication
 6
 
1
Deletion
 1
 
1
Duplication
 1
 
1
Deletion
 1
 
1
Duplication
 1
 

Model Summary

Knockdown Disabled-1 (Dab1) is a model of disrupted cortical neuronal migration, as Dab1 is an intracellular converging point of the reelin pathway.

References

Type
Title
Author, Year
Primary
Behavioral Resilience and Sensitivity to Locally Restricted Cortical Migration Deficits Induced by In Utero Knockdown of Disabled-1 in the Adult Rat.

R_DAB1_1_KD

Model Type: Genetic
Model Genotype: Other
Mutation: Dab1 shRNA plasmid targeting exon 13 of transcript variant X1 was electroporated at E16. Dam was anesthesized to expose uterus horns and inject DNA through uterus wall into lateral ventricles of embryos: unilateral electroporation into progenitor cells of medial dorsal ventricular zone, using 5 pulses of 55V. Control used was scrambled shRNA. Luciferase vector was co-injected for in vivo imaging, and GFP plasmid was co-injected for histology.
Allele Type: Knockdown
Strain of Origin: Sprague Dawley
Genetic Background: Sprague Dawley
ES Cell Line:
Mutant ES Cell Line:
Model Source: Janvier Laboratories

R_DAB1_1_KD

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: Increased distance traveled and rearing
 Open field test
 
Neuronal migration1
Decreased
Description: Cells don't migrate past just above the white matter, whereas in controls GFP cells reach layers VI, V and IV.
 Histology
 
Apoptosis: brain cells1
Increased
Description: Number of GFP neurons at E22 is not different from controls, but at P1 there are fewer cells, and the cell reduction it is maintained up to 6 months.
 Histology
 P1
Exploratory activity: habituation1
Decreased
Description: Total distance traveled in test and sample trial of object recognition are not different, which indicates that the rat did not fully habituate.
 Novel object recognition test
 
Anxiety1
Increased
Description: Increased latency to enter familiar arm in two-trial spontaneous alternation behavior is indicative of hesitation of conflict
 T-maze test
 
Object recognition memory1
 No change
 Novel object recognition test
 
Spatial working memory1
 No change
 T-maze test
 
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Molecular profile, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

 

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