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Allele : Dp(17Airn)1Arge duplication, Chr 17, Argiris Efstratiadis 1

Primary Identifier  MGI:7856673 Allele Type  Targeted
Attribute String  Null/knockout Gene  Dp(17Airn)1Arge
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
description  This allele was made by chromosome engineering by targeted meiotic recombination (Herault et al 1998), by breeding together the Airn truncation allele (Sleutels et al 2002 Nature) and the Igf2r promoter deletion (Sleutels et al 2003 EMBO J.) with Hprt-Cre (Tang et al 2002 Genesis), and screening the offspring of triple mutant males for recombination events.
molecularNote  The allele has a 23kb duplication on chromosome 17 between 3kb downstream of the Airn transcription start site (TSS) (Igf2r intron 2) and 1.9kb downstream of the Igf2r TSS (GRCm38/mm10, chr17: 12,744,358 -12,767,833). This results in an extra 23kb of Airn transcription before it reaches the Igf2r promoter, and duplication of exon 2 of Igf2r that is predicted to cause a frame-shift.
  • mutations:
  • Intergenic deletion,
  • Intragenic deletion
  • synonyms:
  • AIDup,
  • AIDup
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1 Feature

Genome

0 Expresses

1 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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0 Driven By

3 Publication categories