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

Symbol:	Gtf2iem2Jdd
Name:	general transcription factor II I; endonuclease-mediated mutation 2, Joseph D Dougherty
MGI ID:	MGI:6429889
Synonyms:	Gtf2iem2bpdel
Gene:	Gtf2i  Location: Chr5:134266688-134343614 bp, - strand  Genetic Position: Chr5, 74.48 cM
Alliance:	Gtf2iem2Jdd page

Strain of Origin:

FVB/N

Allele Type:    Endonuclease-mediated (Null/knockout) Mutation:    Intragenic deletion   Mutation details: CRISPR/cas9 endonuclease-mediated genome editing created a two base pair deletion in exon 5 of the Gtf2i gene. The mutation is located in the Williams syndrome critical region (WSCR) and is tightly linked to Gtf2ird1em2Jdd on Chromosome 5. The 2 bp deletion results in a premature stop codon in exon 5 and causes a nonsense-mediated decay. GTF2I protein expression is reduced by 100% in E13.5 brains from homozygous mice. (J:94077)

In Mice Carrying this Mutation:

18 assay results 1 RNA-Seq or microarray experiment(s)

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 Gtf2i Mutation:	138 strains or lines available

Original:	J:94077 Mutant Mouse Regional Resource Centers, Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC). Unpublished. 2004-2015;
All:	3 reference(s)