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Dp(5Gtf2i-Gtf2ird1)1Lro
Targeted Allele Detail
Summary
Symbol: Dp(5Gtf2i-Gtf2ird1)1Lro
Name: duplication, Chr 5, L Osborne 1
MGI ID: MGI:5490970
Synonyms: Dp(5)1Lro, Gtf2iDup
Gene: Dp(5Gtf2i-Gtf2ird1)1Lro  Location: unknown  Genetic Position: Chr5, Syntenic
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:196809
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Duplication, Insertion
  Dp(5Gtf2i-Gtf2ird1)1Lro involves 2 genes/genome features (Gtf2i, Gtf2ird1) View all
 
Mutation detailsCre-mediated recombination between loxP sites in intron 4 of Gtf2ird1Gt(XS0608)Wtsi and downstream of exon 34 of Gtf2itm1Lro produced a duplication of the intervening sequence. Western blot analysis confirmed increased expression of Gtf2i but not Gtf2ird1 in the brain. (J:196809, J:222543)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Dp(5Gtf2i-Gtf2ird1)1Lro Mutation:  1 strain or line available
Notes
Gtf2ird1Gt(XS0608)Wtsi was generated in the E14.1TGa.4 ES cell line, derived from 129P2/OlaHsd, and Gtf2itm1Lro was made in the R1 ES cell line, derived from (129X1/SvJ x 129S1/Sv)F1-Kitl+.
References
Original:  J:196809 Mervis CB, et al., Duplication of GTF2I results in separation anxiety in mice and humans. Am J Hum Genet. 2012 Jun 8;90(6):1064-70
All:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory