Emd^tm1Ykh
Targeted Allele Detail

Summary

• Symbol: Emd^tm1Ykh
• Name: emerin; targeted mutation 1, Yukiko K Hayashi
• MGI ID: MGI:3621049
• Synonyms: Emd^-
• Gene: Emd Location: ChrX:73298293-73305154 bp, + strand Genetic Position: ChrX, 37.92 cM
• Alliance: Emd^tm1Ykh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:106563
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 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)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Emd Mutation: 4 strains or lines available

Notes

Mild clinical phenotypic expression similar to Emery-Dreifuss Muscular Dystrophy (OMIM ID: 310300) but symptoms are mild and no dystrophic changes are seen.

References

• 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: 4 reference(s)