Gtf2ird1^tm1Hrd
Targeted Allele Detail

Summary

• Symbol: Gtf2ird1^tm1Hrd
• Name: general transcription factor II I repeat domain-containing 1; targeted mutation 1, Edna C Hardeman
• MGI ID: MGI:4454555
• Gene: Gtf2ird1 Location: Chr5:134386510-134485570 bp, - strand Genetic Position: Chr5, 74.55 cM
• Alliance: Gtf2ird1^tm1Hrd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:159762
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Null/knockout) Mutations: Insertion, Intragenic deletion Mutation details: Exon 2 was replaced with a floxed neo cassette. Cre mediated recombination removed the neo cassette. The absence of protein expression was confirmed by western blot analysis. (J:159762)

Generation of the Gtf2ird1^tm1Hrd allele

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

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 Gtf2ird1 Mutation: 359 strains or lines available

References

• Original: J:159762 Palmer SJ, et al., Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism. J Biol Chem. 2010 Feb 12;285(7):4715-24
• All: 4 reference(s)