Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Gtf2ird1tm1Hrd
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:	Gtf2ird1tm1Hrd page

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+

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 Gtf2ird1tm1Hrd allele

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

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

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:	358 strains or lines available

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)