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Airntm1Dpb
Targeted Allele Detail
Summary
Symbol: Airntm1Dpb
Name: antisense Igf2r RNA; targeted mutation 1, Denise P Barlow
MGI ID: MGI:2677157
Synonyms: Air-T, Airtm1Dpb-pat
Gene: Airn  Location: Chr17:12960198-13078771 bp, + strand  Genetic Position: Chr17, 8.66 cM
Alliance: Airntm1Dpb page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77594
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA 1.2 kb rabbit beta-globin fragment containing a polyadenylation cassette was inserted immediately downstream of the 3.7 kb imprint control element (ICE). The insertion was designed to truncate the RNA product to 4% of its length without disrupting the ICE. While the allele maintains its imprinted status and wild-type expression levels, the truncation results in a loss of gene silencing of the Igf2r/Slc22a2/Slc22a3 cluster on the paternal chromosome. An aberrant transcript was identified by RT-PCR analysis. This splice varient involved a splice donor 53 bp downstream of the transcription start site that joined a slice acceptor of transgenic beta-globin exon 3. (J:77594)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
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 Airn Mutation:  4 strains or lines available
References
Original:  J:77594 Sleutels F, et al., The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature. 2002 Feb 14;415(6873):810-3
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory