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Spontaneous Allele Detail
Symbol: Dsprul
Name: desmoplakin; ruffled
MGI ID: MGI:3511272
Synonyms: rul
Gene: Dsp  Location: Chr13:38335270-38382553 bp, + strand  Genetic Position: Chr13, 18.0 cM
6 month old Dsprul/Dsprul

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

Strain of Origin:  RB156Bnr/Ei
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Insertion
Mutation detailsA 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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 8 anatomical structures
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:  82 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory