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Chromosome Structure Variation : Del(16Es2el-Ufd1l)217Bld deletion, Chr 16, Antonio Baldini 217
Primary Identifier  MGI:2677647 Organism  mouse, laboratory
Chromosome  16 Mgi Type  chromosomal deletion
description  PHENOTYPE: This 1.2 Mb deletion, extending distally from Es2el to Ufd1l, recapitulates the human deletion del22q11 associated with DiGeorge syndrome. Heterozygous mutant mice exhibit cardiovascular defects similar to the most clinically severe aspects of DiGeorge syndrome. [provided by MGI curators]
  • synonyms:
  • Del217Bld,
  • del(16) (Es2-Ufd1l),
  • deletion, Chr 16, Antonio Baldini 217,
  • Del(16Es2el-Ufd1l)217Bld,
  • Df1
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