Syne1^tm1.1Mcn
Targeted Allele Detail

Summary

• Symbol: Syne1^tm1.1Mcn
• Name: spectrin repeat containing, nuclear envelope 1; targeted mutation 1.1, Elizabeth M McNally
• MGI ID: MGI:3834378
• Synonyms: deltaKASH
• Gene: Syne1 Location: Chr10:4970917-5501482 bp, - strand Genetic Position: Chr10, 2.01 cM, cytoband A1
• Alliance: Syne1^tm1.1Mcn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:144757
• Parent Cell Line: PRX-129S6 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Germ line, cre mediated recombination was used to remove the neo cassette and terminal coding exon. This deletes the transmembrane domain and short luminal sequence that contribute to the KASH domain (J:144757)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(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 Syne1 Mutation: 202 strains or lines available

References

• Original: J:144757 Puckelwartz MJ, et al., Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet. 2009 Feb 15;18(4):607-20
• All: 2 reference(s)