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Allele : Del(16Es2el-Ufd1l)217Bld deletion, Chr 16, Antonio Baldini 217

Primary Identifier  MGI:3623881 Allele Type  Targeted
Attribute String  Null/knockout Gene  Del(16Es2el-Ufd1l)217Bld
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2>
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Intergenic deletion,
  • Intragenic deletion
  • synonyms:
  • Df(16)1,
  • Df1,
  • Df1,
  • Del217Bld,
  • Del217Bld,
  • del(16) (Es2-Ufd1l),
  • del(16) (Es2-Ufd1l),
  • Df(16)1
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

32 Publication categories