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

Symbol:	Gnas/Nespastm1.1Jop
Name:	GNAS complex locus; targeted mutation 1.1, Jo Peters
MGI ID:	MGI:4950063
Synonyms:	Nesp-Tint2
Gene:	Gnas  Location: Chr2:174126113-174188537 bp, + strand  Genetic Position: Chr2, 97.89 cM, cytoband E1-H3
Alliance:	Gnas/Nespastm1.1Jop page

Germline Transmission:	Earliest citation of germline transmission: J:171195
Parent Cell Line:	CJ7 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Hypomorph) Mutation:    Insertion   Mutation details: A cassette containing a reverse orientation (relative to Nespas) polyadenylation sequence and a self-excising neo cassette was inserted into exon 1. Cre-mediated recombination removed the neo cassette. The 94% reduction in Nespas transcript expression was confirmed by RT-qPCR on newborn brain extracts with paternal inheritance of the allele. RT-qPCR on newborn brain extracts confirmed reduced Nesp (Gnas) expression when the allele is inherited marternally but increased expression when the allele is paternally inherited. (J:171195)

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

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:171195 Williamson CM, et al., Uncoupling antisense-mediated silencing and DNA methylation in the imprinted gnas cluster. PLoS Genet. 2011 Mar;7(3):e1001347
All:	2 reference(s)