RGD Reference Report - Evaluation of Pax6 mutant rat as a model for autism. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Evaluation of Pax6 mutant rat as a model for autism.

Authors: Umeda, T  Takashima, N  Nakagawa, R  Maekawa, M  Ikegami, S  Yoshikawa, T  Kobayashi, K  Okanoya, K  Inokuchi, K  Osumi, N 
Citation: Umeda T, etal., PLoS One. 2010 Dec 21;5(12):e15500. doi: 10.1371/journal.pone.0015500.
RGD ID: 8552339
Pubmed: PMID:21203536   (View Abstract at PubMed)
PMCID: PMC3006426   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0015500   (Journal Full-text)

Autism is a highly variable brain developmental disorder and has a strong genetic basis. Pax6 is a pivotal player in brain development and maintenance. It is expressed in embryonic and adult neural stem cells, in astrocytes in the entire central nervous system, and in neurons in the olfactory bulb, amygdala, thalamus, and cerebellum, functioning in highly context-dependent manners. We have recently reported that Pax6 heterozygous mutant (rSey(2)/+) rats with a spontaneous mutation in the Pax6 gene, show impaired prepulse inhibition (PPI). In the present study, we further examined behaviors of rSey(2)/+ rats and revealed that they exhibited abnormality in social interaction (more aggression and withdrawal) in addition to impairment in rearing activity and in fear-conditioned memory. Ultrasonic vocalization (USV) in rSey(2)+ rat pups was normal in male but abnormal in female. Moreover, treatment with clozapine successfully recovered the defects in sensorimotor gating function, but not in fear-conditioned memory. Taken together with our prior human genetic data and results in other literatures, rSey(2)/+ rats likely have some phenotypic components of autism.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PAX6Humanautistic disorder  ISOPax6 (Rattus norvegicus)DNA:frameshift mutation:cds: (rat)RGD 
Pax6Ratautistic disorder  IMP  RGD 
Pax6Mouseautistic disorder  ISOPax6 (Rattus norvegicus) RGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Pax6Ratlearned vocalization behavior or vocal learning  IMP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Pax6Ratabnormal behavioral response to light  IAGP DNA:frameshift mutation:cds:RGD 
Pax6Sey2Ratabnormal behavioral response to light  IAGP compared to SDRGD 
SD-Pax6Sey2/MceRatabnormal behavioral response to light  IAGP compared to SDRGD 
Pax6Ratabnormal social/conspecific interaction behavior  IAGP DNA:frameshift mutation:cds:RGD 
Pax6Sey2Ratabnormal social/conspecific interaction behavior  IAGP compared to SDRGD 
SD-Pax6Sey2/MceRatabnormal social/conspecific interaction behavior  IAGP compared to SDRGD 
Pax6Ratdecreased fear-related response  IAGP DNA:frameshift mutation:cds:RGD 
Pax6Sey2Ratdecreased fear-related response  IAGP compared to SDRGD 
SD-Pax6Sey2/MceRatdecreased fear-related response  IAGP compared to SDRGD 
Pax6Ratdecreased prepulse inhibition  IAGP DNA:frameshift mutation:cds:RGD 
Pax6Ratdecreased serotonin level  IAGP DNA:frameshift mutation:cds:RGD 
Pax6Sey2Ratdecreased serotonin level  IAGP  RGD 
SD-Pax6Sey2/MceRatdecreased serotonin level  IAGP compared to SDRGD 
Pax6Ratdecreased vertical activity  IAGP DNA:frameshift mutation:cds:RGD 
Pax6Sey2Ratdecreased vertical activity  IAGP  RGD 
SD-Pax6Sey2/MceRatdecreased vertical activity  IAGP compared to SDRGD 
Pax6Ratdecreased vocalization  IAGP in female pups;DNA:frameshift mutation:cds:RGD 
Pax6Sey2Ratdecreased vocalization  IAGP compared to SDRGD 
SD-Pax6Sey2/MceRatdecreased vocalization  IAGP compared to SDRGD 
Pax6Ratmicrophthalmia  IAGP DNA:frameshift mutation:cds:RGD 
Objects Annotated

Genes (Rattus norvegicus)
Pax6  (paired box 6)
Pax6Sey2  (paired box gene 6, small eye mutation 2)

Genes (Mus musculus)
Pax6  (paired box 6)

Genes (Homo sapiens)
PAX6  (paired box 6)

Strains
SD-Pax6Sey2/Mce  (NA)


Additional Information