Prickle1 +/- mice were shown to exhibit ASD-like behaviors, including altered social behaviors and disrupted circadian rhythms; PRICKLE1 was also shown to interact with Synapsin-1a, a gene product of the ASD-associated gene SYN1 (Paemka et al., 2013).
Molecular Function
This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway and is involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure.. Defects in this gene are associated with epilepsy, progressive myoclonic 1B (EPM1B) [MIM:612437] and neural tube defects (NTD) [MIM:182940].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Gene targeting in TT2 ES Cells.
Allele Type: Targeted (mutaiton)
Strain of Origin: Not specified
Genetic Background: C57/BL6
ES Cell Line: TT2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
ENU-mutagenesis screen from Ingenium Pharmaceuticals with p.Cys251X variant.
Allele Type: ENU mutagenesis
Strain of Origin: Not specified
Genetic Background: C57/BL6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
ENU-mutagenesis screen from Ingenium Pharmaceuticals with p.Phe141Ser variant.
Allele Type: ENU mutagenesis
Strain of Origin: Not specified
Genetic Background: C57/BL6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Gene targeting in TT2 ES Cells.
Allele Type: Targeted (mutaiton)
Strain of Origin: Not specified
Genetic Background: C57/BL6
ES Cell Line: TT2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
ENU-mutagenesis screen from Ingenium Pharmaceuticals with p.Cys251X variant.
Allele Type: ENU mutagenesis
Strain of Origin: Not specified
Genetic Background: C57/BL6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
KI mice with R104Q mutation were generated using CRISPR/Cas9 gene editing. The CRISPR mix containing Cas9 protein, sgRNA, and the single-stranded oligodeoxynucleotides (ssODN) repair template was delivered by pronuclear injection into 0.5-day-old C57BL6 embryos, and then implanted into the fallopian tube of recipient ICR females. Mutant mice were backcrossed to the B6 background for seven generations before conducting analyses to avoid potential off-target effects.
Allele Type: NDD mutation
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: Mutant ES Cell Line: Model Source: Yimin Zou Lab (PMID 34597683)
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
KI mice with R104Q mutation were generated using CRISPR/Cas9 gene editing. The CRISPR mix containing Cas9 protein, sgRNA, and the single-stranded oligodeoxynucleotides (ssODN) repair template was delivered by pronuclear injection into 0.5-day-old C57BL6 embryos, and then implanted into the fallopian tube of recipient ICR females. Mutant mice were backcrossed to the B6 background for seven generations before conducting analyses to avoid potential off-target effects.
Allele Type: NDD mutation
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: Mutant ES Cell Line: Model Source: Yimin Zou Lab (PMID 34597683)
Description: There was a significant 35% reduction in the number of PSD-95-positive excitatory synapses in adult Prickle1 heterozygous mutant mice; No change was observed in P14 mice
Description: Prickle1 R104Q heterozygous mice showed significantly shorter latencies to tonic-clonic seizure than mutant homozygous and WT littermates; No differences were observed for latency of myoclonic jerk among all genotypes
Exp Paradigm: 50 mg/kg pentylenetetrazole intraperitoneally
Description: Prickle1 R104Q mutant mice displayed profound deficit in social approach behavior, whereas WT littermates showed normal social approach behavior by displaying a strong preference for the cup containing a mouse
Description: Prickle1 R104Q heterozygous mice displayed deficits in spatial memory, spending less time in the target quadrant of the Barnes maze task compared to homozygous mutant mice and WT littermates
Description: There was a significant 20% reduction in the number of PSD-95-positive excitatory synapses in homozygous mutant mice at P14 and 35% reduction in adult Prickle1 homozygous mutant mice
Description: Prickle1 R104Q mutant mice displayed profound deficit in social approach behavior, whereas WT littermates showed normal social approach behavior by displaying a strong preference for the cup containing a mouse
Description: Prickle1 R104Q homozygous mice displayed deficit in novel object recognition and did not display strong preference for the novel object compared to heterozygous and WT littermates
