Slc26a4^pdsm
Spontaneous Allele Detail

Summary

• Symbol: Slc26a4^pdsm
• Name: solute carrier family 26, member 4; Pendred's syndrome model
• MGI ID: MGI:3693973
• Gene: Slc26a4 Location: Chr12:31569826-31609968 bp, - strand Genetic Position: Chr12, 13.53 cM, cytoband B1
• Alliance: Slc26a4^pdsm page

Inner ear histology of an Slc26a4^pdsm/Slc26a4^pdsm 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 details: A T-to-A transversion occurred spontaneously in exon 7 resulting in the introduction of a premature stop codon at cysteine codon 282 (p.C282*). (J:121997)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 39 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)