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Del(16Es2el-Ufd1l)217Bld
Targeted Allele Detail
Summary
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:57757
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
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
References
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)
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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory