Del(16Es2el-Ufd1l)217Bld
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 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)
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
|
|
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) |
|