Del(2Nespas-Gnas)1Hju
Targeted Allele Detail

Summary

• Symbol: Del(2Nespas-Gnas)1Hju
• Name: deletion, Chr 2, Harald Juppner 1
• MGI ID: MGI:4459474
• Synonyms: Del1Hju, deltaNesp55^m, deltaNesp55^p, Gnas/Nespas^tm1.1Hju
• Gene: Del(2Nespas-Gnas)1Hju Location: unknown Genetic Position: Chr2, Syntenic

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, Intergenic deletion, Intragenic deletion
• Del(2Nespas-Gnas)1Hju involves 2 genes/genome features (Gnasas1, Gnas) View all
• 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 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 Del(2Nespas-Gnas)1Hju Mutation: 0 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)