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-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Intergenic deletion, Intragenic deletion
• Mutation details: A 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)

Disease models

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)