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

Symbol:	Gnastm1Kel
Name:	GNAS complex locus; targeted mutation 1, Gavin Kelsey
MGI ID:	MGI:3050783
Synonyms:	Gnastm1Kel-mat, Gnastm1Kel-pat, Gnasxl-, Gnasxl1p-
Gene:	Gnas  Location: Chr2:174126113-174188537 bp, + strand  Genetic Position: Chr2, 97.89 cM, cytoband E1-H3
Alliance:	Gnastm1Kel page

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

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)

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

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