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

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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
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autistic disorder  ISOPax6 (Rattus norvegicus)8552339DNA:frameshift mutation:cds: (rat)RGD 
autistic disorder  IMP 8552339 RGD 
autistic disorder  ISOPax6 (Rattus norvegicus)8552339 RGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
learned vocalization behavior or vocal learning  IMP 8552339 RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
abnormal behavioral response to light  IAGP 8552339DNA:frameshift mutation:cds:RGD 
abnormal behavioral response to light  IAGP 8552339; 8552339compared to SDRGD 
abnormal social/conspecific interaction behavior  IAGP 8552339DNA:frameshift mutation:cds:RGD 
abnormal social/conspecific interaction behavior  IAGP 8552339; 8552339compared to SDRGD 
decreased fear-related response  IAGP 8552339DNA:frameshift mutation:cds:RGD 
decreased fear-related response  IAGP 8552339; 8552339compared to SDRGD 
decreased prepulse inhibition  IAGP 8552339DNA:frameshift mutation:cds:RGD 
decreased serotonin level  IAGP 8552339DNA:frameshift mutation:cds:RGD 
decreased serotonin level  IAGP 8552339 RGD 
decreased serotonin level  IAGP 8552339compared to SDRGD 
decreased vertical activity  IAGP 8552339DNA:frameshift mutation:cds:RGD 
decreased vertical activity  IAGP 8552339 RGD 
decreased vertical activity  IAGP 8552339compared to SDRGD 
decreased vocalization  IAGP 8552339in female pups and DNA:frameshift mutation:cds:RGD 
decreased vocalization  IAGP 8552339; 8552339compared to SDRGD 
microphthalmia  IAGP 8552339DNA: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