About   Help   FAQ
Targeted Allele Detail
Symbol: Del(16Es2el-Ufd1l)217Bld
Name: deletion, Chr 16, Antonio Baldini 217
MGI ID: MGI:3623881
Synonyms: del(16) (Es2-Ufd1l), Del217Bld, Df1, Df(16)1
Gene: Del(16Es2el-Ufd1l)217Bld  Location: unknown  Genetic Position: Chr16, Syntenic
Germline Transmission:  Earliest citation of germline transmission: J:57757
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Allele Type:    Targeted (Null/knockout)
Mutations:    Intergenic deletion, Intragenic deletion
Mutation detailsA proximal loxP site was targeted into the Es2el gene. The targeting vector replaced a 200-bp fragment containing exon 4. A second loxP site was targeted into the Ufd1l gene, replacing a 4.5-kb fragment containing exons 2-3. Transient expression of Cre resulted in the deletion of 1.2 Mb extending distally from Es2el to Ufd1l, recapitulating the human deletion del22q11 associated with DiGeorge syndrome. (J:57757)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 136 assay results
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Del(16Es2el-Ufd1l)217Bld Mutation:  1 strain or line available
Original:  J:57757 Lindsay EA, et al., Congenital heart disease in mice deficient for the DiGeorge syndrome region [see comments]. Nature. 1999 Sep 23;401(6751):379-83
All:  28 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
MGI 6.13
The Jackson Laboratory