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Spontaneous Allele Detail
Symbol: Slc27a4pskn
Name: solute carrier family 27 (fatty acid transporter), member 4; pigskin
MGI ID: MGI:5475225
Gene: Slc27a4  Location: Chr2:29802634-29817522 bp, + strand  Genetic Position: Chr2, 20.64 cM, cytoband B
Alteration of skin structure at the earlier stages of Slc27a4pskn/Slc27a4pskn mice

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

Strain of Origin:  FVB
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsA spontaneous A to T transversion at the splice site boundary 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 Slc27a4pskn
View phenotypes for all genotypes (concatenated display).
Disease models
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:  5 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.21
The Jackson Laboratory