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| Nomenclature |
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Symbol:
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Htr2ctm1.1Eme
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Name:
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5-hydroxytryptamine (serotonin) receptor 2C;
targeted mutation 1.1, Ronald Emeson
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MGI ID: |
MGI:4830457 |
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Synonyms: |
5HT2C-VGV |
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Gene:
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Htr2c
Location:
ChrX:146962513-147197277 bp, + strand
Genetic Position: ChrX,
68.46 cM, cytoband D-F4
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:163043
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Parent Cell Line:
| TL1/TL-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Htr2c Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
