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Slc19a3tm1.1Nwak
Targeted Allele Detail
Nomenclature
Symbol: Slc19a3tm1.1Nwak
Name: solute carrier family 19, member 3; targeted mutation 1.1, Nobuaki Wakamatsu
MGI ID: MGI:6162644
Synonyms: Slc19a3 E314Q KI
Gene: Slc19a3  Location: Chr1:83012523-83038448 bp, - strand  Genetic Position: Chr1, 42.65 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  4 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory