Del(2Nespas-Gnas)1Hju Targeted Allele Detail MGI Mouse (MGI:4459474)

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)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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