Gnas^tm1Kel
Targeted Allele Detail

Summary

• Symbol: Gnas^tm1Kel
• Name: GNAS complex locus; targeted mutation 1, Gavin Kelsey
• MGI ID: MGI:3050783
• Synonyms: Gnas^tm1Kel-mat, Gnas^tm1Kel-pat, Gnasxl^-, Gnasxl1^p-
• Gene: Gnas Location: Chr2:174126113-174188537 bp, + strand Genetic Position: Chr2, 97.89 cM, cytoband E1-H3
• Alliance: Gnas^tm1Kel page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:91703
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP flanked targeting cassette containing neo, URA and tACE-Cre recombinase, replaced 60 bp of a conserved praline-rich domain in the Gnasxl-specific exon. A deletion of only 60 bp was unlikely to disrupt imprinting at the complex Gnas locus. Southern blot confirmed recombination. RT-PCR indicated lack of mutant transcript after paternal transmission as Cre expression excised the cassette in the male germ line. Gnas and exon 1A transcripts were not affected in mutants as shown by RT-PCR. Northern blot demonstrated that Gnas transcript levels are also normal in mutants. (J:91703)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

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

Notes

ES cell line = MPI-VI.

References

• Original: J:91703 Plagge A, et al., The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding. Nat Genet. 2004 Aug;36(8):818-26
• All: 8 reference(s)