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Relevance to Autism

Mice with a conditional knockout of MAPK1 in the CNS exhibit marked anomalies in multiple aspects of social behaviors, decreased anxiety-related behaviors and impaired long-term memory (Satoh et al., 2011).

Molecular Function

Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
ERK2 contributes to the control of social behaviors in mice.
Support
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Noonan syndrome 13
ASD, ADHD
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Multiple congenital anomalies
Support
Integrating de novo and inherited variants in 42
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN418R001 
 missense_variant 
 c.404G>C 
 p.Arg135Thr 
 De novo 
  
  
 GEN418R002 
 missense_variant 
 c.521C>T 
 p.Ala174Val 
 De novo 
  
 Simplex 
 GEN418R003 
 missense_variant 
 c.953A>G 
 p.Asp318Gly 
 De novo 
  
 Simplex 
 GEN418R004 
 missense_variant 
 c.238C>T 
 p.His80Tyr 
 De novo 
  
  
 GEN418R005 
 missense_variant 
 c.952G>A 
 p.Asp318Asn 
 De novo 
  
  
 GEN418R006 
 missense_variant 
 c.968C>G 
 p.Pro323Arg 
 De novo 
  
  
 GEN418R007 
 missense_variant 
 c.964G>C 
 p.Glu322Gln 
 De novo 
  
  
 GEN418R008 
 missense_variant 
 c.221T>A 
 p.Ile74Asn 
 De novo 
  
 Simplex 
 GEN418R009 
 synonymous_variant 
 c.1023A>G 
 p.Glu341%3D 
 De novo 
  
  
 GEN418R010 
 missense_variant 
 c.797C>G 
 p.Ser266Cys 
 De novo 
  
  
 GEN418R011 
 missense_variant 
 c.952G>A 
 p.Asp318Asn 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 111
  construct
22
Deletion-Duplication
 14
 
22
Deletion
 7
 
22
Duplication
 2
 

Model Summary

Mutant mice exhibited marked anomalies in multiple aspects of social behaviors, decreased anxiety-related behaviors and impaired long-term memory.

References

Type
Title
Author, Year
Primary
ERK2 contributes to the control of social behaviors in mice.

M_MAPK1_1_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exon 2-3 of Mapk1 using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_MAPK1_1_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain cytoarchitecture1
Abnormal
Description: Abnormal brain cytoarchitecture indicative of astrogliosis indicated by increased number of gfap positive cells in cortex
Exp Paradigm: Immunohistochemical analysis of coronal sections using astrocyte marker gfap
 Immunohistochemistry
 Unreported
Aggression1
Increased
Description: Increased aggression indicated by shorter latency and longer duration of attacks on intruder
Exp Paradigm: Resident-intruder test
 Resident-intruder test
 Unreported
Social interaction1
Abnormal
Description: Abnormal social interaction demonstrated by decreased interaction with social target
Exp Paradigm: Three-reoomed chamber test for social novelty
 Three-chamber social approach test
 Unreported
Social interaction1
Abnormal
Description: Abnormal sociability demonstrated by no difference in time spent interacting with social or inanimate targets
Exp Paradigm: Open field test for social versus inanimate preference
 Open field test
 Unreported
Nest building behavior1
Decreased
Description: Decreased nest building activity; shallower nests
Exp Paradigm: Nest formation behavior
 Nest building assay
 Unreported
Social memory1
Decreased
Description: Decreased social memory
Exp Paradigm: Male mice: social recognition test
 Social recognition test
 Unreported
Anxiety1
Decreased
Description: Decreased anxiety demonstrated by longer time spent in open arms
Exp Paradigm: Elevated plus maze test
 Elevated plus maze test
 Unreported
Anxiety1
Decreased
Description: Decreased anxiety demonstrated by longer time spent in central area
Exp Paradigm: Open field test
 Open field test
 Unreported
Response to novelty1
Decreased
Description: Decreased response to novelty indicated by decreased interaction with novel object in familiar cage
Exp Paradigm: NA
 NA
 Unreported
Cued or contextual fear conditioning1
Abnormal
Description: Abnormal long term memory indicated by decreased context freezing and cued fear conditioning
Exp Paradigm: Contextual/cued fear conditioning
 Fear conditioning test
 Unreported
Maternal nurturing1
Abnormal
Description: Abnormal maternal nurturing indicated by shorter duration of crouching for nursing and increased number of scattered pups in home cage
Exp Paradigm: Pup exchange test
 Cross fostering
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased protein levels of mapk1 in neuronal and glial cells
Exp Paradigm: Mapk1 expression levels
 Immunohistochemistry
 Unreported
Enzyme activity1
Increased
Description: Increased erk1 activation indicated by greater density of phospho-erk1 band
Exp Paradigm: Erk1 activation levels
 Western blot
 Unreported
Protein expression level evidence1
 No change
 Western blot
 Unreported
General locomotor activity1
 No change
 Open field test
 Unreported
Brain cytoarchitecture1
 No change
 Immunohistochemistry
 Unreported
Dendritic architecture: spine density1
 No change
 Histology
 Unreported
Hormone levels1
 No change
 NA
 Unreported
Olfaction1
 No change
 NA
 Unreported
Social interaction1
 No change
 Open field test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure





Download MAPK1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
PTPRR Receptor-type tyrosine-protein phosphatase R 5801 Q15256-3 IP; LC-MS/MS
Huttlin EL , et al. 2015
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 6196 Q15349 IP/WB
Zhao Y , et al. 1996
Ptpn5 protein tyrosine phosphatase, non-receptor type 5 19259 P54830 IP/WB
Kurup PK , et al. 2015
Ppp1r9b protein phosphatase 1, regulatory subunit 9B 84686 O35274 IP/WB
Hu XD , et al. 2015
Rasa1 RAS p21 protein activator 1 25676 P50904 IP/WB
Antoine-Bertrand J , et al. 2015
Trpv2 transient receptor potential cation channel, subfamily V, member 2 29465 Q9WUD2 in vitro kinase assay; Co-localization
Cohen MR , et al. 2015

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