Symbol
Name
ID
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Synonyms
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DDA1, THTR1, TRMA
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Genetic Map
|
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Sequence Map
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Mammalian
homology
|
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Sequences
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All sequences(25)
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Alleles
and
phenotypes
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All alleles(7) :
Targeted, knock-out(2)
Targeted, other(1)
Gene trapped(4)
| Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (1)
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Polymorphisms
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SNPs within 2kb(129 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
|
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Expression
|
Literature Summary: (1 records)
Data Summary:
Assays (2)
Results (13)
Tissues (12)
Theiler Stages: 10,18,23,25,28
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Assay Type |
Assays |
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Results |
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RT-PCR |
1 |
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12 |
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Northern blot |
1 |
|
1 |
cDNA source data(36)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(38)
cDNA(36)
Primer pair(1)
Other(1)
Microarray probesets(3)
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Other database
links
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Protein
domains
|
| InterPro ID |
Description |
| IPR002666 |
Reduced folate carrier |
| IPR016196 |
Major facilitator superfamily, general substrate transporter |
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References
|
(Earliest)
J:72002
Fleming JC et al.,
"Characterization of a murine high-affinity thiamine transporter, slc19a2."
Mol Genet Metab 2001 Sep-Oct;74(1-2):273-80
(Latest)
J:118928
Liberman MC et al.,
"Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype."
J Assoc Res Otolaryngol 2006 Sep;7(3):211-7
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All references(10)
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Other
accession IDs
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MGI:2138530, MGI:2138585
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