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Gnastm1Jop
Targeted Allele Detail
Nomenclature
Symbol: Gnastm1Jop
Name: GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus; targeted mutation 1, Jo Peters
MGI ID: MGI:3050794
Synonyms: DeltaEx1A-DMR, Gnastm1Jop-mat, Gnastm1Jop-pat
Gene: Gnas  Location: Chr2:174284320-174346744 bp, + strand  Genetic Position: Chr2, 97.89 cM, cytoband E1-H3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:91717
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details2.3 kb encompassing most of a differentially methylated region spanning 1A, 612 bp upstream of the promoter, was replaced with a floxed cassette containing Tkneo-pA, URA3 and tACE-Cre-pA. The cassette was deleted upon germ-line transmission, leaving a single loxP site. (J:91717)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Gnas Mutation:  25 strains or lines available
Notes
ES cell line = MAC3.
References
Original:  J:91717 Williamson CM, et al., A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat Genet. 2004 Aug;36(8):894-9
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
09/12/2017
MGI 6.10
The Jackson Laboratory