Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Dsptm2Efu
Name:	desmoplakin; targeted mutation 2, Elaine Fuchs
MGI ID:	MGI:2182575
Synonyms:	DP(-)
Gene:	Dsp  Location: Chr13:38335270-38382553 bp, + strand  Genetic Position: Chr13, 18.0 cM
Alliance:	Dsptm2Efu page

Germline Transmission:	Earliest citation of germline transmission: J:51903
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin selection cassette replaced sequence encoding amino acids 281 through 474. The absence of transcript in homozygous mice was verified by Northern blot analysis. Immunohistochemical analysis using an antibody targeted to the amino terminal shows that neither normal or truncated protein was produced from the targeted allele. (J:51903)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

Original:	J:51903 Gallicano GI, et al., Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol. 1998 Dec 28;143(7):2009-22
All:	2 reference(s)