Htr2c^tm1.1Eme
Targeted Allele Detail

Summary

• Symbol: Htr2c^tm1.1Eme
• Name: 5-hydroxytryptamine (serotonin) receptor 2C; targeted mutation 1.1, Ronald Emeson
• MGI ID: MGI:4830457
• Synonyms: 5HT2C-VGV
• Gene: Htr2c Location: ChrX:145745509-145980273 bp, + strand Genetic Position: ChrX, 68.46 cM, cytoband D-F4
• Alliance: Htr2c^tm1.1Eme page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:163043
• Parent Cell Line: TL1/TL-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Overlap-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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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: 12 strains or lines available

References

• 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: 2 reference(s)