Dysf^prmd
Spontaneous Allele Detail

Summary

• Symbol: Dysf^prmd
• Name: dysferlin; progressive muscular dystrophy
• MGI ID: MGI:3055150
• Gene: Dysf Location: Chr6:83985572-84188042 bp, + strand Genetic Position: Chr6, 36.14 cM
• Alliance: Dysf^prmd page

Mutation origin

• Strain of Origin: A/J

Mutation description

Allele Type: Spontaneous (Null/knockout) Mutation: Transposon insertion Mutation details: A retrotransposon insertion occurred within intron 4, causing aberrant splicing of the gene. Protein was abolished as shown by Northern blot and immunoblot analysis. The insertion was 6000bp in size. This allele was found only in A/J mice, not in A/WySnJ, A/HeJ, C57BL/6J, SJL/J, SWR/J or 129/SvJ mice. (J:92838, J:149430, J:149432) Inheritance: Not Specified

Schematic of the location of the retrotransposon insertion generating the Dysf^prmd allele

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: 6 strains available Cell Lines: 0 lines available
• Carrying any Dysf Mutation: 183 strains or lines available

References

• Original: J:92838 Ho M, et al., Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet. 2004 Sep 15;13(18):1999-2010
• All: 52 reference(s)