Slc19a2<tm1Gelb> Targeted Allele Detail MGI Mouse (MGI:2429761)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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)

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