Dnm2^tm2.1Ics
Targeted Allele Detail

Summary

• Symbol: Dnm2^tm2.1Ics
• Name: dynamin 2; targeted mutation 2.1, Mouse Clinical Institute
• MGI ID: MGI:6506378
• Synonyms: Dnm2^K562E
• Gene: Dnm2 Location: Chr9:21336204-21419055 bp, + strand Genetic Position: Chr9, 7.79 cM
• Alliance: Dnm2^tm2.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:288372
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Exon 16 was replaced with one containing an A-to-G nucleotide change resulting in a lysine to glutamic acid substitution at amino acid 562 (p.K562E). In addition, protamine, cre- and selection marker cassettes flanked by loxP sites were inserted in intron 16-17 which were removed via cre-mediated recombination. The K562E mutation is associated with dominant-intermediate Charcot-Marie-Tooth type B disease. (J:288372)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:288372 Pereira JA, et al., Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy. Hum Mol Genet. 2020 May 28;29(8):1253-1273
• All: 1 reference(s)