Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:77594
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

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)