Dsc1^tm1Dga
Targeted Allele Detail

Summary

• Symbol: Dsc1^tm1Dga
• Name: desmocollin 1; targeted mutation 1, David R Garrod
• MGI ID: MGI:2156926
• Synonyms: Dsc1-
• Gene: Dsc1 Location: Chr18:20217241-20247928 bp, - strand Genetic Position: Chr18, 11.17 cM
• Alliance: Dsc1^tm1Dga page

Eye, skin and growth abnormailities in Dsc1^tm1Dga/Dsc1^tm1Dga mice

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:73102
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-neomycin resistance cassette replaced 2.2kb of intron 1 and 98bp of exon 1, including the translation initiation codon and sequences encoding the start of the signal peptide. RT-PCR analysis did not detect message in epidermis from 2 day old homozygous mutant mice. Western blot analysis using a polyclonal antibody raised against a substantial portion of the extra cellular domain did not detect protein in epidermis from 2 day old homozygous mutant mice. Immunofluorescence studies did not detect protein in epidermis and inner root sheaths of hair follicles from 2 day old mice homozygous mutant mice. (J:73102)

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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: 49 strains or lines available

References

• Original: J:73102 Chidgey M, et al., Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol. 2001 Nov 26;155(5):821-32
• All: 1 reference(s)