Dsg4^hage
Spontaneous Allele Detail

Summary

• Symbol: Dsg4^hage
• Name: desmoglein 4; hage
• MGI ID: MGI:3766998
• Gene: Dsg4 Location: Chr18:20569232-20604878 bp, + strand Genetic Position: Chr18, 11.35 cM
• Alliance: Dsg4^hage page

Mutation origin

• Strain of Origin: EOD

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: This mutation was induced by the insertion of an early transposon II- into intron 8 of the gene locus. The 5,543-bp ETn II- was integrated into intron 8, 203 bp away from the initial nucleotide of intron 8; it was flanked by a duplicated 6-bp repeat (ACTAGG) that originated from genomic sequence. 183-bp of this insertion acted as a pseudo exon by being transcribed in-frame, which disrupted the normal coding sequence for the extracellular cadherin repeat 3 (EC3) domain of the gene product. (J:140028)
• Inheritance: Recessive

Disease models

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 Dsg4 Mutation: 86 strains or lines available

References

• Original: J:140028 Zhang MC, et al., Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice. Immunogenetics. 2008 Oct;60(10):599-607
• All: 1 reference(s)