Slc19a3tm1.1Nwak
Targeted Allele Detail
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| 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: Chr1:82990244-83016169 bp, - strand Genetic Position: Chr1, 42.65 cM
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| Alliance: |
Slc19a3tm1.1Nwak page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:246593
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| Parent Cell Line: |
Not Specified (ES Cell)
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| Strain of Origin: |
Not Specified
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| Allele Type: |
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Targeted (Humanized sequence) |
| Mutations: |
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Insertion, Single point mutation
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Slc19a3 Mutation: |
45 strains or lines available
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| 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) |
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Analysis Tools
