Slc26a4^tm1.1Dontu
Targeted Allele Detail

Summary

• Symbol: Slc26a4^tm1.1Dontu
• Name: solute carrier family 26, member 4; targeted mutation 1.1, Department of Otolaryngology National Taiwan University Hospital
• MGI ID: MGI:5293411
• Synonyms: Slc26a4^tm1Dontuh
• Gene: Slc26a4 Location: Chr12:31569826-31609968 bp, - strand Genetic Position: Chr12, 13.53 cM, cytoband B1
• Alliance: Slc26a4^tm1.1Dontu page

Structural aberrations of the vestibular aqueduct and endolymphatic sac in Slc26a4^tm1.1Dontu/Slc26a4^tm1.1Dontu mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:175861
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Humanized sequence, Hypomorph) Mutations: Insertion, Single point mutation Mutation details: An FRT-flanked neo cassette with a 5' loxP site was inserted in intron 6. A mutation at the end of intron 7 was introduced with an A-to-G mutation in the splice acceptor site of exon 8 (c.919-2A>G). This point mutation results in the abolition of the splice site and consequently the exclusion of out-of-frame exon 8 from transcripts and the introduction of a stop codon at codon position 348. Flp-mediated recombination removed the neo cassette. (J:175861)

Plasmid construct for generating the Slc26a4^tm1.1Dontu allele

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 Slc26a4 Mutation: 38 strains or lines available

References

• Original: J:175861 Lu YC, et al., Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology. PLoS One. 2011;6(7):e22150
• All: 5 reference(s)