Mouse models of dysferlin deficiency
The following mouse strains may be of interest to the dysferlin research community. Please feel free to contact the Jain Foundation for more information or with specific questions about working with these strains.
- Bla/J mice (B6.A-Dysfprmd/GeneJ)
A backcrossed strain of mice carrying the A/J dysferlin mutation on the C57BL/6 background.
- A/J mice
A naturally-occurring dysferlin-deficient strain of mice with a retrotransposon insertion in dysferlin intron 4.
- C57BL/6J-Chr6A/J/NaJ mice
A chromosome substitution strain of mice carrying chromosome 6 (including dysferlin) from the A/J strain on the C57BL/6 background.
- SJL/J mice
A naturally-occurring dysferlin-deficient strain of mice with a deletion of dysferlin exon 45.
BLA/J mice crossed to a highly immunocompromised strain of NRG mice.
- SCID/BLAJ mice
A backcrossed strain of mice carrying the A/J dysferlin mutation on the SCID background.
- Dysf-/- mice (B6.129‐Dysftm1Kcam/J)
A knock out strain of mice in which dysferlin exons 53-55 (the C terminus) have been deleted and backcrossed 7 times on a C57BL/6 background.
A knock out strain of mice in which exons 53 and 54 were deleted by insertion of loxP sites and deleted by cre-mediated recombination.
- B10.SJL‐Dysfim/AwaJ mice
A backcrossed strain of mice carrying the SJL/J dysferlin mutation on the C57BL/10 background.
- B6.Cg-Tg(Ckm-DYSF)3Cam/J A C57BL/6 mouse expressing the human dysferlin gene.
- Dysf-/- (129-Dysftm1KCam/J) A knock out strain of mice in which dysferlin exons 53-55 (the C terminus) have been deleted. Maintained on a mixed B6.129 and C57BL/6 background.
- Mmex38: An engineered dysferlin-deficient strain of mice with the mutation Dysf c.4079T>C (NCBI Genbank: NM_001077694.1) in exon 38 leading to p.Leu1360Pro. Analogous to the human DYSF c.4022T>C (p.Leu1341Pro) in exon 38 causing LGMD2B. Homozygous Dysf p.Leu1360Pro leads to a 90% reduction of dysferlin. Developed by Dr. Simone Spuler.
- DYSF ∆40a hypomorphic mice: 4 mouse lines CRISPR modified to delete DYSF Ex40a and express varying levels of dysferlin (~5-80%). Available for a limited time by request from Dr. Frances Lemckert and Dr. Sandra Cooper.