Epcam^tm1.2Msiv
Targeted Allele Detail

Summary

• Symbol: Epcam^tm1.2Msiv
• Name: epithelial cell adhesion molecule; targeted mutation 1.2, Mamata Sivagnanam
• MGI ID: MGI:5582762
• Synonyms: Epcam^delta4
• Gene: Epcam Location: Chr17:87943407-87958555 bp, + strand Genetic Position: Chr17, 57.87 cM
• Alliance: Epcam^tm1.2Msiv page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:210901
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Intragenic deletion
• Mutation details: An FRT-flanked neomycin resistance cassette with a 3' loxP site was inserted upstream of exon 4. An additional loxP site was inserted downstream of exon 4. Flp-mediated recombination removed the selection cassette. Cre-mediated recombination removed exon 4. This mutation resembles the ~491+1G to A mutation observed in patients with congenital tufting enteropathy. (J:210901)

Expression

In Structures Affected by this Mutation:

8 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 Epcam Mutation: 33 strains or lines available

References

• Original: J:210901 Mueller JL, et al., Functional consequences of EpCam mutation in mice and men. Am J Physiol Gastrointest Liver Physiol. 2014 Feb 15;306(4):G278-88
• All: 3 reference(s)