About   Help   FAQ
Slc26a4pdsm
Spontaneous Allele Detail
Nomenclature
Symbol: Slc26a4pdsm
Name: solute carrier family 26, member 4; Pendred's syndrome model
MGI ID: MGI:3693973
Gene: Slc26a4  Location: Chr12:31519827-31559969 bp, - strand  Genetic Position: Chr12, 13.53 cM, cytoband B1
Inner ear histology of an Slc26a4pdsm/Slc26a4pdsm mouse

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  BXA7/PgnJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA T-to-A transversion occurred spontaneously in exon 7 resulting in the introduction of a premature stop codon in the open reading frame. (J:121997)
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Slc26a4 Mutation:  22 strains or lines available
References
Original:  J:121997 Gagnon LH, et al., Pendred syndrome model, pdsm, a spontaneous mouse mutation in the Slc26a4 gene with associated inner ear abnormalities. MGI Direct Data Submission. 2007;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/15/2018
MGI 6.12
The Jackson Laboratory