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Targeted Allele Detail
Symbol: Htr2ctm1.1Eme
Name: 5-hydroxytryptamine (serotonin) receptor 2C; targeted mutation 1.1, Ronald Emeson
MGI ID: MGI:4830457
Synonyms: 5HT2C-VGV
Gene: Htr2c  Location: ChrX:146962513-147197277 bp, + strand  Genetic Position: ChrX, 68.46 cM, cytoband D-F4
Germline Transmission:  Earliest citation of germline transmission: J:163043
Parent Cell Line:  TL1/TL-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsOverlap-extension PCR replaced 5 adenosines in the editing sites within exon 5 with guanosines, which mimics the base-pairing properties of inosine. A floxed neo cassette was inserted downstream of exon 5 and removed by cre mediated recombination.The predicted product represents a fully edited (VGV) isoform. RNase protection assay confirmed the decreased expression of a splice variant that uses the more proximal donor site in exon 5 (RNA1) and the increased expression of a splice isoform encoding the full length receptor protein. Expression of the splice variant that uses the distal 5' splice site in intron 5 (RNA3) is unchanged. Western blot analysis confirmed increased protein expression in the brain. (J:163043)
View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Htr2c Mutation:  10 strains or lines available
Original:  J:163043 Morabito MV, et al., Mice with altered serotonin 2C receptor RNA editing display characteristics of Prader-Willi syndrome. Neurobiol Dis. 2010 Aug;39(2):169-80
All:  1 reference(s)

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MGI 6.11
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