HELP     Sign In
Search

Relevance to Autism

GAP43(+/-) mice display resistance to change and stress-induced behavioral withdrawal and anxiety, suggesting that GAP43 deficiency leads to the development of a subset of autistic-like behaviors (Zaccaria et al., 2010).

Molecular Function

The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice.

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion-Duplication
 2
 
3
Deletion
 1
 
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 2
 
3
Deletion
 1
 
3
Deletion
 6
 
3
Deletion
 1
 
3
Deletion-Duplication
 17
 

Model Summary

Development of a subset of autistic-like symptoms.

References

Type
Title
Author, Year
Primary
Resistance to change and vulnerability to stress: autistic-like features of GAP43-deficient mice.

M_GAP43_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeted replacement of 476 bp of Gap43 gene from intron 1 and nucleotides 133-171.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Reported
Genetic Background: C57BL/6J 129S3/SvImJ (B6129S3)
ES Cell Line: 313 G418
Mutant ES Cell Line: Not Reported
Model Source: Not Reported

M_GAP43_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Abnormal
Description: Abnormal social approach indicated by increased time spent in interaction zone before introduction of target mouse
Exp Paradigm: Social Interaction Test with a caged unfamiliar adult mouse
 Reciprocal social interaction test
 3-9 months
Social approach1
Abnormal
Description: Abnormal social approach behavior demonstrated by no preference for stranger mouse vs. inanimate object nor preference for novel mouse
Exp Paradigm: Three-Chambered Social Interaction Test
 Three-chamber social approach test
 3-9 months
Depression1
Increased
Description: Increased stress-induced behavioral withdrawl demonstrated by decrease in time spend wimming/climbing
Exp Paradigm: Male Mice: Porsolt's Forced Swim test
 Forced swim test
 3-9 months
Depression1
Decreased
Description: Decreased struggling in response to stress
Exp Paradigm: Tail Suspension Test
 Tail suspension test
 3-9 months
Cognitive flexibility1
Decreased
Description: Decreased performance in reversal learning
Exp Paradigm: Reversal phase of T-Maze test
 T-maze test
 3-9 months
Spatial reference memory1
Abnormal
Description: Abnormal spatial and reversal learning demonstrated by normal swimming ability but increased thigmotaxis, latency to find hidden platform, and time to attain learning criteria
Exp Paradigm: Morris Water Maze Test
 Morris water maze test
 3-9 months
General characteristics1
 No change
 General observations
 3-9 months
Size/growth1
 No change
 General observations
 3-9 months
Anxiety1
 No change
 Light-dark exploration test
 3-9 months
Anxiety1
 No change
 Elevated plus maze test
 3-9 months
Cued or contextual fear conditioning1
 No change
 Fear conditioning test
 3-9 months
Spatial learning1
 No change
 T-maze test
 3-9 months
General locomotor activity1
 No change
 Home cage behavior
 3-9 months
Repetitive digging1
 No change
 Marble-burying test
 3-9 months
Social interaction1
 No change
 Reciprocal social interaction test
 3-9 months
Social transmission of food preference1
 No change
 Social transmission of food preference
 3-9 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
BIRC2 baculoviral IAP repeat containing 2 329 Q13490 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCNL2 cyclin L2 81669 Q96S94 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCR1 chemokine (C-C motif) receptor 1 1230 P32246 IP; LC-MS/MS
Huttlin EL , et al. 2015
CYP2S1 Cytochrome P450 2S1 29785 Q96SQ9-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GDE1 glycerophosphodiester phosphodiesterase 1 51573 Q9NZC3 IP; LC-MS/MS
Huttlin EL , et al. 2015
GJB7 Gap junction beta-7 protein 375519 Q6PEY0 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIFAP3 kinesin-associated protein 3 22920 Q92845 IP; LC-MS/MS
Huttlin EL , et al. 2015
MARVELD2 MARVEL domain containing 2 153562 Q8N4S9 IP; LC-MS/MS
Huttlin EL , et al. 2015
MED21 mediator complex subunit 21 9412 Q13503 IP; LC-MS/MS
Huttlin EL , et al. 2015
PCK2 Phosphoenolpyruvate carboxykinase [GTP], mitochondrial 5106 Q16822 IP; LC-MS/MS
Huttlin EL , et al. 2015
S1PR2 sphingosine-1-phosphate receptor 2 9294 O95136 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC25A41 Solute carrier family 25 member 41 284427 Q8N5S1 IP; LC-MS/MS
Huttlin EL , et al. 2015
TIGD5 tigger transposable element derived 5 84948 Q53EQ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM185A Transmembrane protein 185A 84548 Q8NFB2 IP; LC-MS/MS
Huttlin EL , et al. 2015
ACTA1 actin, alpha 1, skeletal muscle 100009506 in vitro binding assay; Co-localization
He Q , et al. 1997
Actb actin, beta 81822 P60711 IP; LC-MS/MS
Wang CY , et al. 2015
Actn4 actinin alpha 4 63836 Q9QXQ0 IP; LC-MS/MS
Wang CY , et al. 2015
Elavl2 ELAV like neuron-specific RNA binding protein 2 286973 Q8CH84 IP; LC-MS/MS
Wang CY , et al. 2015
Gphn gephyrin 64845 Q03555 IP; LC-MS/MS; Co-localization; IP/WB
Wang CY , et al. 2015
Hsp90aa1 heat shock protein 90, alpha (cytosolic), class A member 1 299331 P82995 IP; LC-MS/MS
Wang CY , et al. 2015
Hspa4 heat shock protein 4 266759 O88600 IP; LC-MS/MS
Wang CY , et al. 2015
Hspa8 heat shock 70kDa protein 8 24468 P63018 IP; LC-MS/MS
Wang CY , et al. 2015
Kif5a kinesin family member 5A 314906 Q6QLM7 IP; LC-MS/MS
Wang CY , et al. 2015
Map1b microtubule-associated protein 1B 29456 P15205 IP; LC-MS/MS
Wang CY , et al. 2015
Psmd2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 287984 Q4FZT9 IP; LC-MS/MS
Wang CY , et al. 2015
Sptan1 spectrin, alpha, non-erythrocytic 1 64159 P16086 IP; LC-MS/MS
Wang CY , et al. 2015
Uba1 ubiquitin-like modifier activating enzyme 1 314432 Q5U300 IP; LC-MS/MS
Wang CY , et al. 2015
CALM calmodulin-like 326597 P62157 in vitro binding assay; Affinity chromatography
Alexander KA , et al. 1987
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 286852 P48452 in vitro phosphatase assay
Liu YC and Storm DR 1989
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha 282321 P63099 in vitro phosphatase assay
Liu YC and Storm DR 1989
Prkcb protein kinase C, beta 25023 P68403 in vitro kinase assay
Liu YC and Storm DR 1989
Prkcb protein kinase C, beta 25023 P68403 in vitro kinase assay
Alexander KA , et al. 1987

HELP
Copyright © 2017 MindSpec, Inc.