Dnm2^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Dnm2^tm1.1Ics
• Name: dynamin 2; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:4848043
• Synonyms: Dnm2^R465W
• Gene: Dnm2 Location: Chr9:21336204-21419055 bp, + strand Genetic Position: Chr9, 7.79 cM
• Alliance: Dnm2^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:166364
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 11 was replaced with one in which an A-to-T transversion results in the amino acid substitution of arginine with tryptophan at position 465 (p.R465W). A loxP site flanked neomycin resistance gene cassette inserted int intron 11 was removed by cre-mediated recombination. (J:166364)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Dnm2 Mutation: 100 strains or lines available

References

• Original: J:166364 Durieux AC, et al., A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet. 2010 Dec 15;19(24):4820-36
• All: 12 reference(s)