FVB.AK(Cg)-Del(17)T^hp/Biat

Status	Available to order
EMMA ID	EM:09898
Citation information	RRID:IMSR_EM:09898 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	FVB.AK(Cg)-Del(17)T^hp/Biat
Alternative name	FVB.AK-Del(17)T
Strain type	Spontaneous
Allele/Transgene symbol	Del(17)T^hp
Gene/Transgene symbol	Del(17)T

Information from provider

Provider	Denise Barlow
Provider affiliation	CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Genetic information	The T hairpin (T^hp) deletion is a spontaneous deletion encompassing a minimum of 5.56 Mb on mouse chromosome 17 between Fndc1 and Sod2. The deletion arose on a AKR/J background and has been backcrossed to FVB/N for more than 50 generations.
Phenotypic information	Homozygous: Homozygous T embryos are expected to show early post-implantation lethality around E7.5 due to the phenotype of the Wtap null mouse, a gene located within the deletion Fukusumi et al 2008 Dev Dyn, Horluchi et al 2006 PNAS). Heterozygous: Embryos hemizygous for a maternal copy of the T deletion die between E13.5 and E18.5 due to deletion of imprinted gene Igf2r that is only expressed from the maternal allele (Barlow et al 1991 Nature). Mice hemizygous for a paternal T deletion are viable and fertile, but have a hairpin tail due to a reduced expression of Brachyury (T), which lies within the deletion.
Breeding history	The T^hp deletion arose spontaneously on an AKR/J background at the Jackson Lab in 1962. It was backcrossed and maintained on a C3H/HeSnJ background at the Jackson Lab. In Denise Barlow’s lab the Thp deletion was initially backcrossed to a BALB/c background, but since 1996 it has been maintained on an FVB/N background (backcrossed for at least 70 generations).
References	Hairpin-tail: a case of post-reductional gene action in the mouse egg.;JOHNSON D R, ;1974;Genetics;76;795-805; 4838760 The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus.;Barlow D P, Stöger R, Herrmann B G, Saito K, Schweifer N, ;1991;Nature;349;84-7; 1845916 Airn transcriptional overlap, but not its lncRNA products, induces imprinted Igf2r silencing.;Latos Paulina A, Pauler Florian M, Koerner Martha V, Şenergin H Başak, Hudson Quanah J, Stocsits Roman R, Allhoff Wolfgang, Stricker Stefan H, Klement Ruth M, Warczok Katarzyna E, Aumayr Karin, Pasierbek Pawel, Barlow Denise P, ;2012;Science (New York, N.Y.);338;1469-72; 23239737 A downstream CpG island controls transcript initiation and elongation and the methylation state of the imprinted Airn macro ncRNA promoter.;Koerner Martha V, Pauler Florian M, Hudson Quanah J, Santoro Federica, Sawicka Anna, Guenzl Philipp M, Stricker Stefan H, Schichl Yvonne M, Latos Paulina A, Klement Ruth M, Warczok Katarzyna E, Wojciechowski Jacek, Seiser Christian, Kralovics Robert, Barlow Denise P, ;2012;PLoS genetics;8;e1002540; 22396659 Extra-embryonic-specific imprinted expression is restricted to defined lineages in the post-implantation embryo.;Hudson Quanah J, Seidl Christine I M, Kulinski Tomasz M, Huang Ru, Warczok Katarzyna E, Bittner Romana, Bartolomei Marisa S, Barlow Denise P, ;2011;Developmental biology;353;420-31; 21354127 Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal.;Stöger R, Kubicka P, Liu C G, Kafri T, Razin A, Cedar H, Barlow D P, ;1993;Cell;73;61-71; 8462104 The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1.;Lyle R, Watanabe D, te Vruchte D, Lerchner W, Smrzka O W, Wutz A, Schageman J, Hahner L, Davies C, Barlow D P, ;2000;Nature genetics;25;19-21; 10802648 The non-coding Air RNA is required for silencing autosomal imprinted genes.;Sleutels Frank, Zwart Ronald, Barlow Denise P, ;2002;Nature;415;810-3; 11845212 The Air noncoding RNA epigenetically silences transcription by targeting G9a to chromatin.;Nagano Takashi, Mitchell Jennifer A, Sanz Lionel A, Pauler Florian M, Ferguson-Smith Anne C, Feil Robert, Fraser Peter, ;2008;Science (New York, N.Y.);322;1717-20; 18988810 Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes.;Zwart R, Sleutels F, Wutz A, Schinkel A H, Barlow D P, ;2001;Genes & development;15;2361-6; 11562346
Homozygous fertile	no
Homozygous viable	no
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	University of Veterinary Medicine, Vienna, Austria
Animals used for archiving	heterozygous FVB.129P2/OlaHsd males

Disease and phenotype information

MGI phenotypes (allele matching)

distended pericardium / MGI
polydactyly / MGI
kinked tail / MGI
thick tail / MGI
short tail / MGI
exencephaly / MGI
open neural tube / MGI
absent notochord / MGI
edema / MGI
decreased litter size / MGI
abnormal neural tube morphology / MGI
abnormal notochord morphology / MGI
abnormal cervical vertebrae morphology / MGI
abnormal sacral vertebrae morphology / MGI
spina bifida / MGI
maternal effect / MGI
abnormal neural tube closure / MGI
abnormal cervical atlas morphology / MGI
abnormal cervical axis morphology / MGI
abnormal vertebral column morphology / MGI
short vertebral column / MGI
abnormal tail development / MGI
slow postnatal weight gain / MGI
prenatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

distended pericardium / MGI
polydactyly / MGI
kinked tail / MGI
thick tail / MGI
short tail / MGI
exencephaly / MGI
open neural tube / MGI
absent notochord / MGI
edema / MGI
decreased litter size / MGI
abnormal neural tube morphology / MGI
abnormal notochord morphology / MGI
abnormal cervical vertebrae morphology / MGI
abnormal sacral vertebrae morphology / MGI
spina bifida / MGI
maternal effect / MGI
abnormal neural tube closure / MGI
abnormal cervical atlas morphology / MGI
abnormal cervical axis morphology / MGI
abnormal vertebral column morphology / MGI
short vertebral column / MGI
abnormal tail development / MGI
slow postnatal weight gain / MGI
prenatal lethality, complete penetrance / MGI

Literature references

Hairpin-tail: a case of post-reductional gene action in the mouse egg.;JOHNSON D R, ;1974;Genetics;76;795-805; 4838760
The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus.;Barlow D P, Stöger R, Herrmann B G, Saito K, Schweifer N, ;1991;Nature;349;84-7; 1845916
Airn transcriptional overlap, but not its lncRNA products, induces imprinted Igf2r silencing.;Latos Paulina A, Pauler Florian M, Koerner Martha V, Şenergin H Başak, Hudson Quanah J, Stocsits Roman R, Allhoff Wolfgang, Stricker Stefan H, Klement Ruth M, Warczok Katarzyna E, Aumayr Karin, Pasierbek Pawel, Barlow Denise P, ;2012;Science (New York, N.Y.);338;1469-72; 23239737
A downstream CpG island controls transcript initiation and elongation and the methylation state of the imprinted Airn macro ncRNA promoter.;Koerner Martha V, Pauler Florian M, Hudson Quanah J, Santoro Federica, Sawicka Anna, Guenzl Philipp M, Stricker Stefan H, Schichl Yvonne M, Latos Paulina A, Klement Ruth M, Warczok Katarzyna E, Wojciechowski Jacek, Seiser Christian, Kralovics Robert, Barlow Denise P, ;2012;PLoS genetics;8;e1002540; 22396659
Extra-embryonic-specific imprinted expression is restricted to defined lineages in the post-implantation embryo.;Hudson Quanah J, Seidl Christine I M, Kulinski Tomasz M, Huang Ru, Warczok Katarzyna E, Bittner Romana, Bartolomei Marisa S, Barlow Denise P, ;2011;Developmental biology;353;420-31; 21354127
Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal.;Stöger R, Kubicka P, Liu C G, Kafri T, Razin A, Cedar H, Barlow D P, ;1993;Cell;73;61-71; 8462104
The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1.;Lyle R, Watanabe D, te Vruchte D, Lerchner W, Smrzka O W, Wutz A, Schageman J, Hahner L, Davies C, Barlow D P, ;2000;Nature genetics;25;19-21; 10802648
The non-coding Air RNA is required for silencing autosomal imprinted genes.;Sleutels Frank, Zwart Ronald, Barlow Denise P, ;2002;Nature;415;810-3; 11845212
The Air noncoding RNA epigenetically silences transcription by targeting G9a to chromatin.;Nagano Takashi, Mitchell Jennifer A, Sanz Lionel A, Pauler Florian M, Ferguson-Smith Anne C, Feil Robert, Fraser Peter, ;2008;Science (New York, N.Y.);322;1717-20; 18988810
Bidirectional action of the Igf2r imprint control element on upstream and downstream imprinted genes.;Zwart R, Sleutels F, Wutz A, Schinkel A H, Barlow D P, ;2001;Genes & development;15;2361-6; 11562346

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Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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FVB.AK(Cg)-Del(17)Thp/Biat