Tfe3^tm1Est
Targeted Allele Detail

Summary

• Symbol: Tfe3^tm1Est
• Name: transcription factor E3; targeted mutation 1, Eirikur Steingrimsson
• MGI ID: MGI:3044119
• Synonyms: Tcfe3-, Tfe3^Fcr
• Gene: Tfe3 Location: ChrX:7628799-7641441 bp, + strand Genetic Position: ChrX, 3.5 cM, cytoband A2
• Alliance: Tfe3^tm1Est page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:89821
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 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. (J:89821)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Tfe3^tm1Est/Tfe3^tm1Est	either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
cx2	Mitf^mi-ew/Mitf^mi-ew Tfe3^tm1Est/Tfe3^+	either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
cx3	Mitf^mi-ew/Mitf^mi-ew Tfe3^tm1Est/Tfe3^tm1Est	either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
cx4	Mitf^mi-vga9/Mitf^mi-vga9 Tfe3^tm1Est/Tfe3^tm1Est	either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)
cx5	Mitf^Mi/Mitf^Mi Tfe3^tm1Est/Tfe3^tm1Est	either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)
cx6	Mitf^Mi-wh/Mitf^Mi-wh Tfe3^tm1Est/Tfe3^tm1Est	either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)
cx7	Mitf^Mi-wh/Mitf^Mi-wh Tfe3^tm1Est/Tfe3^tm1Est Tfec^tm1Est/Tfec^tm1Est	either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)
cx8	Tfe3^tm1Est/Tfe3^tm1Est Tfec^tm1Est/Tfec^tm1Est	either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)
cx9	Tfe3^tm1Est/Tfe3^tm1Est Tfeb^tm1Est/Tfeb^+	either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

Phenotypes:

Affected Systems	hm1	cx2	cx3	cx4	cx5	cx6	cx7	cx8	cx9
show or hide all annotated terms Sex:
craniofacial			√	√
delayed tooth eruption			√	√
growth/size/body			√	√		√
delayed tooth eruption			√	√
decreased body weight			√			√
hematopoietic system			√	√	√
abnormal osteoclast morphology			√	√	√
immune system			√	√	√
abnormal osteoclast morphology			√	√	√
integument		√	√	√	√	√	√
absent coat pigmentation		√	√	√	√	√	√
mortality/aging			√	√		√
postnatal lethality, complete penetrance			√	√
postnatal lethality, incomplete penetrance						√
pigmentation		√	√	√	√	√	√
absent coat pigmentation		√	√	√	√	√	√
skeleton		√	√	√	√	√	√
delayed tooth eruption			√	√
abnormal osteoclast morphology			√	√	√
osteopetrosis		√	√	√	√	√	√
vision/eye		√	√	√	√	√	√
microphthalmia		√	√	√	√	√	√
normal phenotype	√							√	√
no abnormal phenotype detected	√							√	√

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

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Tfe3 Mutation: 23 strains or lines available

References

• Original: J:89821 Steingrimsson E, et al., Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4477-82
• All: 20 reference(s)