RGD Reference Report - Behavioral and neuromorphological characterization of a novel Tuba1 mutant mouse. - Rat Genome Database

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Behavioral and neuromorphological characterization of a novel Tuba1 mutant mouse.

Authors: Furuse, Tamio  Yamada, Ikuko  Kushida, Tomoko  Masuya, Hiroshi  Miura, Ikuo  Kaneda, Hideki  Kobayashi, Kimio  Wada, Yumiko  Yuasa, Shigeki  Wakana, Shigeharu 
Citation: Furuse T, etal., Behav Brain Res. 2012 Feb 1;227(1):167-74. doi: 10.1016/j.bbr.2011.11.002. Epub 2011 Nov 11.
RGD ID: 12859087
Pubmed: PMID:22101068   (View Abstract at PubMed)
DOI: DOI:10.1016/j.bbr.2011.11.002   (Journal Full-text)

As part of the RIKEN large-scale N-ethyl-N-nitrosourea (ENU) mutagenesis project, we screened mice with a dominant mutation that exhibited abnormal behavior using an open-field test and a home-cage activity test. We tested 495 male progeny of C57BL/6J males treated with ENU and untreated C3H/HeJ females using the open-field test and isolated behavioral mutant M101736, which exhibited a significant increase in spontaneous locomotor activity. We identified a missense mutation in the Tuba1 gene, which encodes the TUBA1 protein, and designated the mutant gene Tuba1(Rgsc1736). This mutation results in an aspartic acid to glycine substitution in the TUBA1 protein. Detailed analyses revealed that Tuba1(Rgsc1736) heterozygotes exhibited inattention to novel objects and aberrant patterns of home-cage activity. The results of a behavioral pharmacological analysis using methylphenidate and morphological analyses of embryonic and adult brains suggested that Tuba1(Rgsc1736) is a novel animal model for neurodevelopmental disorders.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Developmental Disabilities  ISOTuba1a (Mus musculus)12859087; 12859087DNA:missense mutation:exon:RGD 
Developmental Disabilities  IMP 12859087DNA:missense mutation:exon:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tuba1a  (tubulin, alpha 1A)

Genes (Mus musculus)
Tuba1a  (tubulin, alpha 1A)

Genes (Homo sapiens)
TUBA1A  (tubulin alpha 1a)


Additional Information