Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Gnastm1Jop
Name:	GNAS complex locus; targeted mutation 1, Jo Peters
MGI ID:	MGI:3050794
Synonyms:	DeltaEx1A-DMR, Gnastm1Jop-mat, Gnastm1Jop-pat
Gene:	Gnas  Location: Chr2:174126113-174188537 bp, + strand  Genetic Position: Chr2, 97.89 cM, cytoband E1-H3
Alliance:	Gnastm1Jop page

Germline Transmission:	Earliest citation of germline transmission: J:91717
Parent Cell Line:	Other (see notes) (ES Cell)
Strain of Origin:	129S/SvEv

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: 2.3 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	53 strains or lines available

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)