About   Help   FAQ
Slc27a4pskn
Spontaneous Allele Detail
Summary
Symbol: Slc27a4pskn
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: Slc27a4pskn page
Alteration of skin structure at the earlier stages of Slc27a4pskn/Slc27a4pskn 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 detailsA 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 Slc27a4pskn
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 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:  36 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory