Dsp^rul
Spontaneous Allele Detail

Summary

• Symbol: Dsp^rul
• Name: desmoplakin; ruffled
• MGI ID: MGI:3511272
• Synonyms: rul
• Gene: Dsp Location: Chr13:38335357-38382553 bp, + strand Genetic Position: Chr13, 18.0 cM
• Alliance: Dsp^rul page

6 month old Dsp^rul/Dsp^rul

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: RB156Bnr/Ei

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Insertion
• Mutation details: A spontaneous duplication of TGTCAGAA at chromosome 13 position 38,197,110-117 (GRCm38) causes a frameshift beginning in the last exon, resulting in the insertion of 4 novel amino acids followed by a premature stop codon that yields a C-terminal truncation of the protein, which is predicted to have partial function with spectrin repeat elements and chromosome segregation ATPase domain intact but partial loss of the plectrin repeats, and western blot analysis shows an altered mutant isoform. (J:217650, J:222308)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Dsp Mutation: 136 strains or lines available

References

• Original: J:96444 Harris BS, et al., A New Hair Mutation Named Ruffled Maps to Chromosome 13. MGI Direct Data Submission. 2005
• All: 3 reference(s)