Dnm1^Ftfl
Spontaneous Allele Detail

Summary

• Symbol: Dnm1^Ftfl
• Name: dynamin 1; fitful
• MGI ID: MGI:3033341
• Synonyms: Dyn1^ftfl
• Gene: Dnm1 Location: Chr2:32198483-32243350 bp, - strand Genetic Position: Chr2, 22.09 cM
• Alliance: Dnm1^Ftfl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: A single change of a G-to-A in the first of two alternatively spliced regions results in an alanine to threonine substitution at amino acid 408 (p.A408T). This mutation only affects the Dnm1ax isoform sequences; the a exon is spliced out in the Dnm1bx forms, resulting all three Dnm1ax transcripts being altered. (J:163311)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:

25 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Dnm1 Mutation: 40 strains or lines available

References

• Original: J:163311 Boumil RM, et al., A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. PLoS Genet. 2010 Aug;6(8)
• All: 6 reference(s)