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Transgene Detail
Symbol: Tg(Th-SNCA*A30P*A53T)39Eric
Name: transgene insertion 39, Eric K Richfield
MGI ID: MGI:3530031
Synonyms: hm2alpha-SYN-39, Tg(Th-SNCA*A30P*A53T)39Fed, Tg(Thy1-SNCA*A30P,A53T)39Fed, THsynDM
Transgene: Tg(Th-SNCA*A30P*A53T)39Eric  Location: unknown  
Alliance: Tg(Th-SNCA*A30P*A53T)39Eric page
Strain of Origin:  C57BL/6
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(Th-SNCA*A30P*A53T)39Eric expresses 1 gene
Mutation detailsThe transgene contains a 9 kb rat tyrosine hydroxylase promoter, a splice donor/intron/splice acceptor, a poly(A) site from the human growth hormone gene, and a mutated human alpha synuclein cDNA encoding a protein that carries two amino acid substitutions, Ala53Thr and Ala30Pro, which are found in human Parkinson Disease patients. RT-PCR detected transgene expression in midbrain, eye, and adrenal gland. Real time quantitative RT-PCR as well as in situ hybridization histochemistry detected high levels of transgene expression in the midbrain. Catecholaminergic nuclei in the brain of transgenic mice expressed both human mRNA and human protein. These mice express high levels of the human protein in the cell bodies of dopaminergic neurons in the midbrain and its main projection region, the striatum, dopaminergic dendrites, and nigrostriatal axons and terminals. (J:76482)
View phenotypes and curated references for all genotypes (concatenated display).
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Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Young transgenic mice demonstrated significantly increased locomotor activity and a shorter time to right compared to both nontransgenic littermates and Tg(SNCA)5Fed transgenic mice, which express the wild-type human gene under control of a 9 kb rat Thy1 promoter. Locomotor responses to amphetamine were impaired in young transgenic mice. The abnormal axons visualized in the median forebrain bundle of transgenic mice were more dilated and beaded in appearance compared to those seen in nontransgenic littermate controls. The terminals in the nucleus accumbens of transgenic mice also appeared abnormal with the smaller caliber processes and terminals often dilated or enlarged compared to those seen in nontransgenic littermate controls. Neither compact round cytoplasmic inclusions nor intranuclear inclusions were identified in transgenic mice at 4 months of age. J). Axons in transgenic mice that stained for Thy1 were beaded and dilated in appearance and displayed increased discontinuities.
Original:  J:76482 Richfield EK, et al., Behavioral and neurochemical effects of wild-type and mutated human alpha-synuclein in transgenic mice. Exp Neurol. 2002 May;175(1):35-48
All:  14 reference(s)

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