Slc26a4^tm1Egr
Targeted Allele Detail

Summary

• Symbol: Slc26a4^tm1Egr
• Name: solute carrier family 26, member 4; targeted mutation 1, Eric D Green
• MGI ID: MGI:2385787
• Synonyms: Pds^-, Slc26a4^delta
• Gene: Slc26a4 Location: Chr12:31569826-31609968 bp, - strand Genetic Position: Chr12, 13.53 cM, cytoband B1
• Alliance: Slc26a4^tm1Egr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67072
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 8 was replaced with a neomycin selection cassette via homologous recombination. While, normal transcript was undetected by RT-PCR and Northern blot analyses of total kidney RNA isolated from homozygous mutant mice, RT-PCR revealed the presence of an aberrant transcript containing a portion of the neo cassette. (J:67072)

Disease models

Expression

In Mice Carrying this Mutation:	6 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	16 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: 38 strains or lines available

References

• Original: J:67072 Everett LA, et al., Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet. 2001 Jan 15;10(2):153-61
• All: 45 reference(s)