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Spontaneous Allele Detail
Symbol: Dsg4hage
Name: desmoglein 4; hage
MGI ID: MGI:3766998
Gene: Dsg4  Location: Chr18:20436175-20471821 bp, + strand  Genetic Position: Chr18, 11.35 cM
Strain of Origin:  EOD
Allele Type:    Spontaneous
Mutation:    Insertion
Mutation detailsThis 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
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  19 strains or lines available
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)

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MGI 6.01
The Jackson Laboratory