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| Nomenclature |
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Symbol:
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Dsg4hage
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Name:
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desmoglein 4;
hage
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MGI ID: |
MGI:3766998 |
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Gene:
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Dsg4
Location:
Chr18:20436175-20471821 bp, + strand
Genetic Position: Chr18,
11.35 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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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 (A CTAGG) 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Dsg4 Mutation:
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18 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
