Slc27a4^pskn
Spontaneous Allele Detail

Summary

• Symbol: Slc27a4^pskn
• Name: solute carrier family 27 (fatty acid transporter), member 4; pigskin
• MGI ID: MGI:5475225
• Gene: Slc27a4 Location: Chr2:29692646-29707534 bp, + strand Genetic Position: Chr2, 20.64 cM, cytoband B
• Alliance: Slc27a4^pskn page

Alteration of skin structure at the earlier stages of Slc27a4^pskn/Slc27a4^pskn mice

Show the 4 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: FVB

Mutation description

Allele Type: Spontaneous Mutation: Single point mutation Mutation details: A spontaneous A-to-T transversion at the penultimate nucleotide of exon in the splice region of exon 9 and intron 9 results in the aberrant splicing between exon 8 and 10 with exclusion of exon 9 from expressed transcripts. (J:194779) Inheritance: Recessive

Schematic of the point mutation in Slc27a4^pskn

Expression

In Structures Affected by this Mutation:

5 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 Slc27a4 Mutation: 37 strains or lines available

References

• Original: J:194779 Tao J, et al., A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis. PLoS One. 2012;7(11):e50634
• All: 1 reference(s)