Gtf2ird1^Gt(XE465)Byg
Gene trapped Allele Detail

Summary

• Symbol: Gtf2ird1^Gt(XE465)Byg
• Name: general transcription factor II I repeat domain-containing 1; gene trap XE465, BayGenomics
• MGI ID: MGI:3831526
• Synonyms: Gtf2ird1^-
• Gene: Gtf2ird1 Location: Chr5:134386510-134485570 bp, - strand Genetic Position: Chr5, 74.55 cM
• Alliance: Gtf2ird1^Gt(XE465)Byg page

Craniofacial, vascular, allantois and other defects in Gtf2i^Gt(XE029)Byg/Gtf2i^Gt(XE029)Byg and Gtf2ird1^Gt(XE465)Byg/Gtf2ird1^Gt(XE465)Byg embryos at E9.5 - E12.5

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Mutant Cell Line: XE465
• Germline Transmission: Earliest citation of germline transmission: J:143508
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector Vector: pGT1Lxf Vector Type: gene trap
• Mutation details: A gene trap vector pGT1Lxf containing beta-geo was inserted into intron 22 upstream of the functional nuclear localization signal. (J:143508)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  XE465	CC199585 ; (MGI Seq Detail)	5' RACE	Chr5:134404961-134412624 bp (-)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  309 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Disease models

Expression

In Structures Affected by this Mutation:

17 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 Gtf2ird1 Mutation: 359 strains or lines available

Notes

All BayGenomics gene trap mutations were generated in either CGR8 or E14TG2a (129P2/OlaHsd) parental ES cell lines, with the majority in subline E14TG2a.4. The specific ES cell line in which each mutation was made is not specified.

References

• Original: J:143508 Enkhmandakh B, et al., Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. Proc Natl Acad Sci U S A. 2009 Jan 6;106(1):181-6
• All: 2 reference(s)