Slc19a2^tm1Gelb
Targeted Allele Detail

Summary

• Symbol: Slc19a2^tm1Gelb
• Name: solute carrier family 19 (thiamine transporter), member 2; targeted mutation 1, Bruce D Gelb
• MGI ID: MGI:2429761
• Synonyms: Slc19a2-
• Gene: Slc19a2 Location: Chr1:164076615-164092954 bp, + strand Genetic Position: Chr1, 71.56 cM
• Alliance: Slc19a2^tm1Gelb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:79974
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc19a2 Mutation: 33 strains or lines available

References

• 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
• All: 4 reference(s)