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| Nomenclature |
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Symbol:
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Del(16Es2el-Ufd1l)217Bld
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Name:
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deletion, Chr 16, Antonio Baldini
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MGI ID: |
MGI:3623881 |
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Synonyms: |
del(16) (Es2-Ufd1l), Del217Bld, Df1, Df(16)1 |
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Gene:
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Del(16Es2el-Ufd1l)217Bld
Location:
unknown
Genetic Position: Chr16,
Syntenic
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:57757
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Parent Cell Line:
| AB2.1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intergenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
14 reference(s)
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Analysis Tools
