Dsg3^sqk
Spontaneous Allele Detail

Summary

• Symbol: Dsg3^sqk
• Name: desmoglein 3; squeaky
• MGI ID: MGI:5708345
• Gene: Dsg3 Location: Chr18:20643331-20674367 bp, + strand Genetic Position: Chr18, 11.39 cM
• Alliance: Dsg3^sqk page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: A 1092 bp deletion was identified in the region between the 3' end of intron 5 and part of exon 7. The deletion removes all of exon 6, intron 6 and 12 codons of exon 7. The mutant protein has a loss of 69 amino acids within the extracellular cadherin domain 2 (EC2). Real-time quantitative PCR and Western blot analyses indicated similar levels of transcript expression but reduced levels of protein expression compared to the wild-type protein. (J:219200)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

18 anatomical structure(s)

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 Dsg3 Mutation: 74 strains or lines available

References

• Original: J:219200 Kountikov EI, et al., A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype. Am J Pathol. 2015 Mar;185(3):617-30
• All: 1 reference(s)