Gnasas1^tm1.1Hju
Targeted Allele Detail

Summary

• Symbol: Gnasas1^tm1.1Hju
• Name: GNAS antisense RNA 1; targeted mutation 1.1, Harald Juppner
• MGI ID: MGI:4459475
• Synonyms: deltaNesp55^m, deltaNesp55^p
• Gene: Gnasas1 Location: Chr2:174123030-174137229 bp, - strand Genetic Position: Chr2, 97.89 cM
• Alliance: Gnasas1^tm1.1Hju page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:160293
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A self-excising neo cassette with a testes specific cre (tACE) replaced a 4.3 kb genomic segment spanning exons 1 and 2 of Gnas and exon 2 through part of exon 4 of Nespas. Cre mediated recombination removed the neo cassette. (J:160293)

Disease models

Expression

In Mice Carrying this Mutation:	18 assay results
In Structures Affected by this Mutation:	1 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 Gnasas1 Mutation: 6 strains or lines available

References

• Original: J:160293 Frohlich LF, et al., Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib. Proc Natl Acad Sci U S A. 2010 May 18;107(20):9275-80
• All: 2 reference(s)