Gsdma3^Dfl
Spontaneous Allele Detail

Summary

• Symbol: Gsdma3^Dfl
• Name: gasdermin A3; defolliculated
• MGI ID: MGI:2385837
• Gene: Gsdma3 Location: Chr11:98517186-98529052 bp, + strand Genetic Position: Chr11, 62.21 cM
• Alliance: Gsdma3^Dfl page

Mutation origin

• Strain of Origin: BALB/cOlaHsd

Mutation description

• Allele Type: Spontaneous
• Mutations: Duplication, Insertion
• Mutation details: This phenotypic mutant arose spontaneously in a BALB/c colony obtained from Harlan. A B2 element is inserted in exon 7 near the 3' splice site at position 861 of the mRNA. This generates an in-frame stop codon and changes the Ile at residue 260 to 260-ArgAspTrp-262 as well inserting a 15bp duplication of the mRNA sequence from nucleotide 846 to 860. (J:78078, J:96427)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Gsdma3 Mutation: 26 strains or lines available

References

• Original: J:78078 Porter RM, et al., Defolliculated (dfl): a dominant mouse mutation leading to poor sebaceous gland differentiation and total elimination of pelage follicles. J Invest Dermatol. 2002 Jul;119(1):32-7
• All: 3 reference(s)