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Dsc1tm1Pko
Targeted Allele Detail
Nomenclature
Symbol: Dsc1tm1Pko
Name: desmocollin 1; targeted mutation 1, Peter J Koch
MGI ID: MGI:3028701
Synonyms: dsc1-deltaE17LoxP, dsc1deltaE17LoxP
Gene: Dsc1  Location: Chr18:20084703-20114773 bp, - strand  Genetic Position: Chr18, 11.17 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:87593
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsIntron 16 and exon 17 were deleted and the 3' end of exon 16 was fused to the 3' UTR. A floxed PGK-neomycin cassette was also inserted 0.23kb downstrean of exon 16. The neomycin cassette was subsequently excised by transient transfection of properly targeted ES cells with a Cre expression plasmid. RT-PCR analysis indicated that an aberrant mRNA was produced which retained intron 15. A truncated protein product is expected rather than gene disruption. (J:87593)
Phenotypes
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Find Mice (IMSR)
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 Dsc1 Mutation:  15 strains or lines available
References
Original:  J:87593 Cheng X, et al., Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol. 2004 Jan;24(1):154-63
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory