Slc19a3^tm1.1Nwak
Targeted Allele Detail

Summary

• Symbol: Slc19a3^tm1.1Nwak
• Name: solute carrier family 19, member 3; targeted mutation 1.1, Nobuaki Wakamatsu
• MGI ID: MGI:6162644
• Synonyms: Slc19a3 E314Q KI
• Gene: Slc19a3 Location: Chr1:82990244-83016169 bp, - strand Genetic Position: Chr1, 42.65 cM
• Alliance: Slc19a3^tm1.1Nwak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:246593
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to C point mutation at nucleotide 940, resulting in a glutamate to glutamine amino acid change at position 314 (E314Q), was introduced in exon 4. In addition, a neomycin selection cassette flanked by loxP sites was inserted downstream of the mutation in intron 4 which was removed via cre-mediated recombination. The E314Q mutation corresponds to the human E320Q mutation seen in Japanese patients with biotin-responsive basal ganglia disease. (J:246593)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Slc19a3 Mutation: 45 strains or lines available

References

• Original: J:246593 Suzuki K, et al., High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice. PLoS One. 2017;12(6):e0180279
• All: 1 reference(s)