Estimated Removal of Live Colony date: 16 April 2020.Tfe3 (transcription factor E3) knock-out mice are phenotypically normal, however, when combined with mutations in other Mitf-Tfe family members, phenotypes are observed in bone development and humoral immunity.
David Fisher, Massachusetts General Hospital
The targeted Tfe3 (transcription factor E3) gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor and is one of the four members of the Mitf-Tfe family. Mice homozygous (or hemizygous) for this X-linked knock-out (KO) allele are phenotypically normal. However, when combined with mutations in other Mitf-Tfe genes, phenotypes are observed in bone development and humoral immunity - suggesting a functional redundancy among family members. In combination with the MitfMi-wh allele, double mutant mice exhibit severe osteopetrosis. Inactivation of Tfeb and Tfe3 in T cells results in impaired expression of CD40L by CD4+ T cells. These mice may be useful for studies of osteoclast development or T cell dependent antibody responses.
A targeting vector containing a neomycin cassette was used to replace a 5.5 kb fragment containing 7 exons, the 5' end and the bHLH-Zip domain. The mutation destabilizes message and no stable mRNA is produced. The construct was electroporated into 129S1/Sv-derived CJ7 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric animals were bred to C57BL/6J to achieve germline transmission. The mice were then backcrossed to C57BL/6J for at least 20 generations by the donating lab (see SNP note below). Upon arrival, sperm was cryopreserved. To establish a live colony, an aliquot of frozen sperm is used to fertilize C57BL/6J.
A 48 SNP (single nucleotide polymorphism) panel analysis, with 43 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. While the 43 markers throughout the genome suggested a C57BL/6 genetic background, 3 of 5 markers that determine C57BL/6J from C57BL/6N were found to be segregating. These data suggest the mice sent to The Jackson Laboratory Repository were on a mixed C57BL/6J ; C57BL/6N genetic background.
|Allele Name||targeted mutation 1, Eirikur Steingrimsson|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||targeted mutation 1, Eirikur Steingrimsson; Tfe3tm1Est|
|Gene Symbol and Name||Tfe3, transcription factor E3|
|Gene Synonym(s)||F830016E06Rik; RCCX1; Tcfe3; AI851540; Tcfe3; RGD1559642; bHLHe33; RCCP2; Tfe-3; F830016E06Rik; expressed sequence AI851540; transcription factor 3, Igh enhancer binding; Tfe-3; TFEA; RIKEN cDNA F830016E06 gene|
|Strain of Origin||129S1/Sv-Oca2+ Tyr+ Kitl+|
|Molecular Note||A 5.5 kb genomic fragment encompassing 7 exons and encoding the bHLH-Zip domains was replaced with a PGK-neo cassette inserted by homologous recombination. Transcript was undetected by RT-PCR analysis of renal RNA obtained from hemizygous mutant mice.|
Tfe3 is located on the X chromosome. While maintaining a live colony, homozygous females may be bred with hemizygous males.
When using the Tfe3Fcr mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #42292 in your Materials and Methods section.
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