Rare mutations in the MAPK3 gene have been identified with ASD (Schaaf et al., 2011).
Molecular Function
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
rl mutants showed aberrant innervation patterns of presynaptic motor type III axons in muscles 13 (M13) and 12 (M12) and increased patterns of premature defasciculation of presynaptic axon bundles near muscle 12 (M12). These phenotypes were partially rescued by eother neuron-specific or muscle-specific expression of rl.
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.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
BDSC stock 386 expressing loss of function allele.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Weak loss-of-function rl^1 allele, or hypomorphic allele (Biggs et al 1994).
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source: BDSC
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
The elav^c155-Gal4 driver combined with UAS-Dicer2 in hairpin UAS-RNAi stock rolled (rl) (Park et al 2016).
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Overexpression of rl in neuronal only populations using elav^C!%%-Gal4 driver in UAS-rl^1 line in the wildtype background.
Allele Type: Overexpression
Strain of Origin: Not reported
Genetic Background: The Canton-S; w^1118
ES Cell Line: Mutant ES Cell Line: Model Source: BDSC
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Heterozygous mutant with carrying rl^1 allele.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source: BDSC
Model Type:
Genetic
Model Genotype:
Heterozygous/Heterozygous
Mutation:
Double mutant containing rl^1 null allele in combination with Cdk2^3 null allele.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source: BDSC
Model Type:
Genetic
Model Genotype:
Heterozygous/Heterozygous
Mutation:
Double mutant containing rl^1 null allele in combination with GP93^EY06213 null allele.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source: BDSC
Model Type:
Genetic
Model Genotype:
Heterozygous/Heterozygous
Mutation:
Double mutant containing rl^1 null allele in combination with Galphaq^1 null allele.
Allele Type: Loss-of-function
Strain of Origin: Not reported
Genetic Background: Not reported
ES Cell Line: Mutant ES Cell Line: Model Source: BDSC
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Eye-specific knockdown of rl was generated using RNAi transgenic line with the GMR-Gal4 driver on medium at 30C degrees.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC 109108
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Wing-specific knockdown of rl was generated using RNAi transgenic line with the MS1096-Gal4 driver on medium at 25C degrees.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC 109108
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Neuron-specific knockdown of rl was generated using RNAi transgenic line with the Elav-Gal4 driver on medium at 25C degrees.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC 109108
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Neuron-specific knockdown of rl was generated using RNAi transgenic line with the Elav-Gal4 driver on medium at 25C degrees.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC 35642
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Neuron-specific knockdown of rl was generated using RNAi transgenic line with the Elav-Gal4 driver on medium at 25C degrees.
Allele Type: Conditional knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC 35641
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Ubiquitous knockdown of rl was generated using RNAi transgenic line on medium at 25C degrees.
Allele Type: Knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC 109108
Model Type:
Genetic
Model Genotype:
Transgenic
Mutation:
Ubiquitous knockdown of rl was generated using RNAi transgenic line on medium at room temperature.
Allele Type: Knockdown
Strain of Origin: Unreported
Genetic Background: Unreported
ES Cell Line: Mutant ES Cell Line: Model Source: VDRC 109108
Description: rl mutant larvae showed an increase in the number of muscle 13 (M13) neuromuscular junctions with ectopic type III axons compared to controls.
Description: rl mutant larvae showed aberrant innervation patterns of presynaptic motor type III axons in muscles 13 (M13) and 12 (M12) compared to controls.
Anatomical projections and connectivity: neuromuscular junctions1
Abnormal
Description: rl mutants showed abberant innervation patterns at the neuromuscular junction compared to controls. Specifically, rl mutants showed reduced number of total neuromuscular junctions and increased number (and fraction) of type III axons in muscle 13.
Anatomical projections and connectivity: neuromuscular junctions1
Abnormal
Description: rl mutants showed abberant innervation patterns at the neuromuscular junction compared to controls. Specifically, rl mutants showed increased number (and fraction) of type III axons in muscle 13.
Anatomical projections and connectivity: neuromuscular junctions1
Abnormal
Description: rl mutants showed abberant innervation patterns at the neuromuscular junction compared to controls. Specifically, rl mutants showed increased number (and fraction) of type III axons in muscle 13.
Anatomical projections and connectivity: neuromuscular junctions1
Abnormal
Description: rl mutants showed abberant innervation patterns at the neuromuscular junction compared to controls. Specifically, rl mutants showed increased number (and fraction) of type III axons in muscle 13.
Anatomical projections and connectivity: neuromuscular junctions1
Abnormal
Description: rl mutants showed abberant innervation patterns at the neuromuscular junction compared to controls. Specifically, rl mutants showed increased number (and fraction) of type III axons in muscle 13.
Description: Knockdowns showed abnormal eye development compared to controls. Specifically, over 80% of Knockdowns showed small eyes and rough eyes phenotypes. Additional defects were observed in primary cells, bristle group, secondary cells, tertiary cells, eye rotation, and hexagon structure of the eye. Moreover, Knockdowns showed a decrease in the number of photoreceptor cells as well as eye area compared to controls.
Description: Knockdowns showed an increase in seizures compared to controls. This increase is evident in both the percentage of seizing flies per sample and the number of seizures per fly.
