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Emdtm1.1Stw
Targeted Allele Detail
Nomenclature
Symbol: Emdtm1.1Stw
Name: emerin; targeted mutation 1.1, Colin L Stewart
MGI ID: MGI:3621266
Synonyms: Emdstw2
Gene: Emd  Location: ChrX:74254687-74261548 bp, + strand  Genetic Position: ChrX, 37.92 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:106760
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsA floxed PgkNeo cassette was inserted in intron 1. A third loxP site was also inserted in the 3' untranslated region of exon 5. Cre mediated recombination was then used to remove exons 2 through 5 from mice in which the gene was correctly targeted. Northern blot analysis failed to detect transcript in mutant heart and muscle samples. (J:106760)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Emd Mutation:  4 strains or lines available
References
Original:  J:106760 Melcon G, et al., Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum Mol Genet. 2006 Feb 15;15(4):637-51
All:  6 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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last database update
06/30/2020
MGI 6.15
The Jackson Laboratory