Sgk3^fz-Mdf
Spontaneous Allele Detail

Summary

• Symbol: Sgk3^fz-Mdf
• Name: serum/glucocorticoid regulated kinase 3; fuzzy Mark D Fleming
• MGI ID: MGI:3712860
• Gene: Sgk3 Location: Chr1:9868332-9971070 bp, + strand Genetic Position: Chr1, 2.08 cM
• Alliance: Sgk3^fz-Mdf page

Mutation origin

• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F2

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The mutation is a 2.4-kb genomic deletion encompassing part of intron 17, exon 18, and sequences encoding the 3'-untranslated region (3'-UTR) of the mRNA. This deletion would result in termination of protein translation at valine 440 (Val440Ter) and thus loss of the 55 C-terminal amino acids, which include the entire C-terminal protein kinase C-like domain. (J:125551)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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 Sgk3 Mutation: 30 strains or lines available

References

• Original: J:125551 Campagna DR, et al., Mutations in the Serum/Glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse Fuzzy (fz) hair phenotype. J Invest Dermatol. 2008 Mar;128(3):730-2
• All: 1 reference(s)