Gnas/Nespas^tm1.1Jop
Targeted Allele Detail

Summary

• Symbol: Gnas/Nespas^tm1.1Jop
• Name: GNAS complex locus; targeted mutation 1.1, Jo Peters
• MGI ID: MGI:4950063
• Synonyms: Nesp-T^int2
• Gene: Gnas Location: Chr2:174126113-174188537 bp, + strand Genetic Position: Chr2, 97.89 cM, cytoband E1-H3
• Alliance: Gnas/Nespas^tm1.1Jop page

Mutation origin

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

Mutation description

• 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)

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: 54 strains or lines available

References

• 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)