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| Nomenclature |
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Symbol:
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Slc19a2tm1Gelb
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Name:
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solute carrier family 19 (thiamine transporter), member 2;
targeted mutation 1, Bruce D Gelb
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MGI ID: |
MGI:2429761 |
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Synonyms: |
Slc19a2- |
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Gene:
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Slc19a2
Location:
Chr1:164249046-164265385 bp, + strand
Genetic Position: Chr1,
71.56 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:79974
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: Exon 2 was disrupted by the insertion of a neomycin selection cassette. An aberrantly spliced transcript lacking a 3' portion of exon 2 was identified in homozygous mutant mice by Northern blot analysis. A reduction in high affinity thiamin transport in erythrocytes indicated an absence of functional protein. (J:79974)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:79974
Oishi K et al.,
"Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice."
Hum Mol Genet 2002 Nov 1;11(23):2951-60
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All: |
4 reference(s)
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Analysis Tools
