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Rasgrf1tm2Pds
Targeted Allele Detail
Nomenclature
Symbol: Rasgrf1tm2Pds
Name: RAS protein-specific guanine nucleotide-releasing factor 1; targeted mutation 2, Paul D Soloway
MGI ID: MGI:3611766
Gene: Rasgrf1  Location: Chr9:89909908-90026977 bp, + strand  Genetic Position: Chr9, 47.31 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:103751
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe pBJR2 vector was used to insert a 1.5-kb neo cassette and a 500-nt Pgk enhancer and promoter fragment in reverse orientation such that it replaced the Rasgrf1 repeats located downstream of the differentially methylated domain. Removal of the paternal repeats caused a loss of paternal allele methylation as shown by Southern blot. The enhancer insertion enabled expression of the transcript whether it was transmitted maternally or paternally. Expression was due entirely to the presence of the Pgk-enhancer and promoter insertion and not due to a repeat deletion. (J:103751, J:185711)
Phenotypes
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Rasgrf1 Mutation:  28 strains or lines available
References
Original:  J:103751 Yoon B, et al., Rasgrf1 imprinting is regulated by a CTCF-dependent methylation-sensitive enhancer blocker. Mol Cell Biol. 2005 Dec;25(24):11184-90
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory