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Slc4a3tm1Ges
Targeted Allele Detail
Nomenclature
Symbol: Slc4a3tm1Ges
Name: solute carrier family 4 (anion exchanger), member 3; targeted mutation 1, Gary E Shull
MGI ID: MGI:3770133
Synonyms: AE3-
Gene: Slc4a3  Location: Chr1:75546266-75562172 bp, + strand  Genetic Position: Chr1, 39.16 cM, cytoband C3
Retinal abnormalities in the Slc4a3tm1Ges/Slc4a3tm1Ges mouse

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:129363
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe gene was disrupted by replacing most of exon 6, intron 6, the cardiac-specific first exon and promoter, and exon 7 with a neomycin resistance gene. Expression of both the cardiac specific- short isoform and the long isoform of the gene were eliminated in homozygote mice as determined by western blots of retinal extracts. (J:129363, J:143125)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Find Mice (IMSR)
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
Carrying any Slc4a3 Mutation:  18 strains or lines available
References
Original:  J:129363 Alvarez BV, et al., Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger. PLoS One. 2007;2(9):e839
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory