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Targeted Allele Detail
Symbol: Emdtm1Ykh
Name: emerin; targeted mutation 1, Yukiko K Hayashi
MGI ID: MGI:3621049
Synonyms: Emd-
Gene: Emd  Location: ChrX:74254687-74261548 bp, + strand  Genetic Position: ChrX, 37.92 cM
Germline Transmission:  Earliest citation of germline transmission: J:106563
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA vector was designed to delete sequence encoding the C-terminal 84 amino acids, including the transmembrane domain of the locus by replacing 702 bp with a bovine growth hormone polyA sequence and neo gene. Immunoblot failed to detect wild-type protein in mutants. (J:106563)
View phenotypes and curated references for all genotypes (concatenated display).
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 Emd Mutation:  4 strains or lines available
Mild clinical phenotypic expression similar to Emery-Dreifuss Muscular Dystrophy (OMIM ID: 310300) but symptoms are mild and no dystrophic changes are seen.
Original:  J:106563 Ozawa R, et al., Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles. Am J Pathol. 2006 Mar;168(3):907-17
All:  3 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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MGI 6.15
The Jackson Laboratory