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Allele : Dsg3<sqk> desmoglein 3; squeaky

Primary Identifier  MGI:5708345 Allele Type  Spontaneous
Attribute String  Hypomorph Gene  Dsg3
Inheritance Mode  Recessive Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intragenic deletion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele