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Spontaneous Allele Detail
Symbol: Dysfprmd
Name: dysferlin; progressive muscular dystrophy
MGI ID: MGI:3055150
Gene: Dysf  Location: Chr6:84008590-84211060 bp, + strand  Genetic Position: Chr6, 36.14 cM
Strain of Origin:  A/J
Allele Type:    Spontaneous
Mutation:    Transposon insertion
Mutation detailsA 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 Dysfprmd allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  114 strains or lines available
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:  28 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory