Studies have found rare mutations in the IL1RAPL1 gene that are associated with autism (e.g. Bhat et al., 2008) as well as with developmental delay and intellectual disability (Mikhail et al., 2011).
Molecular Function
This protein may regulate calcium-dependent exocytosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.
KO mouse show a reduction of both dendritic spine density and excitatory synapses in the CA1 region of the hippocampus associated with specific deficits in hippocampal long-term synaptic plasticity.
References
Type
Title
Author, Year
Primary
A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Gene targeted deletion of fifth exon of the Il1rapl1 gene resulting in a disruption of the ORF after transcription and splicing of exon 4-6 which leads to a premature STOP codon of the extracellular domain.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6N
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Charles River
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
The targeting vector was constructed by replacing exon 3 with a pgk-neo cassette. The linearized vector, containing the long and short arms for initiating recombination derived from a BAC, was used for electroporation and generation of chimeric mice. This resulted in the loss of IL1RAPL1 protein in the brain.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6
ES Cell Line: RENKA
Mutant ES Cell Line: Model Source:
Description: Decreased density of postsynaptic spines on secondary and tertiary dendritic segments of ca1 pyramidal neurons
Exp Paradigm: Diolistic fluorescent labeling
Description: Decreased number of asymmetric axospinous contacts in the stratum radiatum of the ca1 area of the hippocampus
Exp Paradigm: Stereology and electron microscopy of the ca1 area of the hippocampus-stereology
Description: Decreased number of asymmetric axospinous contacts in the stratum radiatum of the ca1 area of the hippocampus
Exp Paradigm: Stereology and electron microscopy of the ca1 area of the hippocampus- electron microscopy
Description: Decreased long term potentiation stimulated at hippocampal sc-ca1 synapse by tbs
Exp Paradigm: Ltp measured by patch clamp in hippocampal sc-ca1 synapse after theta-burst stimulation (tbs)
Description: Il1rap1 null mice show increased locomotor activity compared to wt mice in distance traveled in open field test and elevated-plus maze
Exp Paradigm: Elevated plus maze test
Description: Il1rap1 null mice show improved performance than wt mice in the accelerating rotarod test, having a longer latency to fall
Exp Paradigm: NA
Description: Il1rap1 null mice have a shorter latency of falling off in the wire hang test compared to wt, therefore show some decrease in grip strength
Exp Paradigm: NA
Description: Il1rap1 null mice show increased locomotor activity compared to wt mice in distance traveled in open field test and elevated-plus maze
Exp Paradigm: Open field test
Description: The spine density is significantly reduced in the hippocampal and layer2/3 pyramidal neurons in il1rap1 null mice, compared to wt mice
Exp Paradigm: NA
Description: Il1rap1 null mice surprisingly show improved sociability in the three-chambered social approach test spending more time sniffing the cage containing the stranger mouse than the empty cage
Exp Paradigm: NA
Description: Il1rap1 null mice show reduced anxiety by spending more time in the center of the open field and in the open arms of the elevated-plus maze
Exp Paradigm: Open field test: time spent in the center
Description: Il1rap1 null mice show reduced anxiety by spending more time in the center of the open field and in the open arms of the elevated-plus maze
Exp Paradigm: Elevated plus maze test
Description: Il1rap1 null mice show poor acquisition of spatial memory reinforced by food pellets as reward, in both t maze test and banes maze test.
Exp Paradigm: T-maze test: forced alternation (food reward)
Description: Il1rap1 null mice show poor acquisition of spatial memory reinforced by food pellets as reward, in both t maze test and banes maze test.
Exp Paradigm: Barnes maze test: food reward
Description: Il1rap1 null mice have reduced acquisition of reversal learning, where the position of the reward food pellet in changed, in both the barnes maze and t-maze tests
Exp Paradigm: T-maze test: reversal learning
Description: Il1rap1 null mice show reduced working/reference memory in the barnes maze test as they make more errors and have longer escape latencies compared to wt mice.
Exp Paradigm: NA
Cued or contextual fear conditioning: memory of cue: long term recall1
Decreased
Description: Il1rap1 null mice continue to have poor retention of the conditioning cue 28 days after fear conditioning compared to wt mice
Exp Paradigm: NA
Description: Il1rap1 null mice have reduced acquisition of reversal learning, where the position of the reward food pellet in changed, in both the barnes maze and t-maze tests
Exp Paradigm: Barnes maze test: reversal learning and probe test
Description: Il1rap1 null mice show poorer memory in retention of the barnes baze task on the second probe test conducted 29 days after the training. there is no differnence between genotypes in retention when the probe test is conducted one day after training.
Exp Paradigm: NA
