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| Nomenclature |
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Symbol:
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Gnas/Nespastm1.1Hju
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Name:
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GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus;
targeted mutation 1.1, Harald Juppner
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MGI ID: |
MGI:4459474 |
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Synonyms: |
deltaNesp55m, deltaNesp55p |
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Gene:
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Gnas
Location:
Chr2:174284320-174346744 bp, + strand
Genetic Position: Chr2,
97.89 cM, cytoband E1-H3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:160293
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gnas Mutation:
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9 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
