B6N(Cg)-Ptpn11tm1.1Ics/Ics

Status

Available to order

EMMA IDEM:16156
Citation informationRRID:IMSR_EM:16156 

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 nameB6N(Cg)-Ptpn11tm1.1Ics/Ics
Alternative namePtpn11tm1.1Ics/Ics
Strain typeTargeted Mutant Strains : Point mutation
Allele/Transgene symbolPtpn11tm1.1Ics
Gene/Transgene symbolPtpn11

Information from provider

ProviderPatrick Raynal
Provider affiliationMaison de la Recherche, Université de Toulouse - Jean Jaurès
Genetic informationA point mutation (ACC>ATG) was introduced by site-directed mutagenesis into exon 12 (ENSMUSE00001235044) at position 4847 resulting in the amino acid substitution of methionine for threonine (T468M) and a floxed neomycin cassette was inserted within the following intron; cre-mediated recombination removed the neomycin cassette. The amino acid substitution is a common mutation in Leopard syndrome.
Phenotypic informationHomozygous:
N/A

Heterozygous:
N/A
Breeding history84.37% C57BL/6N; the line was backcrossed 3 times with C57BL/6N mice (C57BL/6J 3.12%, 129/SvPas 12.5%, C57BL/6NTac 84.37%).
References
  • LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.;Tajan Mylène, Batut Aurélie, Cadoudal Thomas, Deleruyelle Simon, Le Gonidec Sophie, Saint Laurent Céline, Vomscheid Maëlle, Wanecq Estelle, Tréguer Karine, De Rocca Serra-Nédélec Audrey, Vinel Claire, Marques Marie-Adeline, Pozzo Joffrey, Kunduzova Oksana, Salles Jean-Pierre, Tauber Maithé, Raynal Patrick, Cavé Hélène, Edouard Thomas, Valet Philippe, Yart Armelle, ;2014;Proceedings of the National Academy of Sciences of the United States of America;111;E4494-503; 25288766
Homozygous fertilenot known
Homozygous viablenot known
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (gene matching)
  • abnormal organ of Corti morphology / MGI
  • increased leukocyte cell number / MGI
  • increased neutrophil cell number / MGI
  • abnormal heart morphology / MGI
  • abnormal heart development / MGI
  • enlarged heart / MGI
  • thin ventricular wall / MGI
  • double outlet right ventricle / MGI
  • abnormal cell death / MGI
  • increased cell proliferation / MGI
  • decreased cell proliferation / MGI
  • flattened snout / MGI
  • small liver / MGI
  • enlarged spleen / MGI
  • open neural tube / MGI
  • decreased body length / MGI
  • decreased body weight / MGI
  • decreased body size / MGI
  • abnormal eye distance/ position / MGI
  • ocular hypertelorism / MGI
  • abnormal lipid level / MGI
  • cardiac hypertrophy / MGI
  • hepatic necrosis / MGI
  • abnormal axial mesoderm / MGI
  • abnormal endoderm development / MGI
  • incomplete somite formation / MGI
  • abnormal gastrulation / MGI
  • abnormal visceral yolk sac morphology / MGI
  • abnormal allantois morphology / MGI
  • impaired embryo implantation / MGI
  • embryonic growth arrest / MGI
  • postnatal growth retardation / MGI
  • decreased brown adipose tissue amount / MGI
  • hemorrhage / MGI
  • decreased litter size / MGI
  • premature death / MGI
  • abnormal neural tube morphology / MGI
  • abnormal reproductive system morphology / MGI
  • no abnormal phenotype detected / MGI
  • hydrops fetalis / MGI
  • heart left ventricle hypertrophy / MGI
  • thin myocardium / MGI
  • decreased circulating insulin level / MGI
  • dilated heart left ventricle / MGI
  • dilated cardiomyopathy / MGI
  • abnormal notochord morphology / MGI
  • increased heart weight / MGI
  • decreased systemic arterial blood pressure / MGI
  • increased insulin sensitivity / MGI
  • decreased circulating alanine transaminase level / MGI
  • thick ventricular wall / MGI
  • no phenotypic analysis / MGI
  • short femur / MGI
  • cardiac fibrosis / MGI
  • decreased cardiomyocyte apoptosis / MGI
  • kinked neural tube / MGI
  • increased glycerol level / MGI
  • abnormal facial morphology / MGI
  • increased atrioventricular cushion size / MGI
  • increased lean body mass / MGI
  • embryonic growth retardation / MGI
  • disorganized embryonic tissue / MGI
  • polyploidy / MGI
  • thin myocardium compact layer / MGI
  • caudal body truncation / MGI
  • abnormal vitelline vascular remodeling / MGI
  • abnormal chest morphology / MGI
  • failure of initiation of embryo turning / MGI
  • abnormal embryonic neuroepithelium morphology / MGI
  • enlarged myocardial fiber / MGI
  • increased energy expenditure / MGI
  • decreased adiponectin level / MGI
  • abnormal blastocyst morphology / MGI
  • inner cell mass degeneration / MGI
  • increased lymphocyte cell number / MGI
  • abnormal trophectoderm morphology / MGI
  • decreased cardiac muscle contractility / MGI
  • abnormal rostral-caudal axis patterning / MGI
  • improved glucose tolerance / MGI
  • pericardial effusion / MGI
  • decreased triglyceride level / MGI
  • decreased heart rate / MGI
  • small cranium / MGI
  • cardiovascular system phenotype / MGI
  • hematopoietic system phenotype / MGI
  • decreased circulating glucose level / MGI
  • decreased ventricle muscle contractility / MGI
  • decreased susceptibility to diet-induced obesity / MGI
  • decreased circulating leptin level / MGI
  • increased fat cell size / MGI
  • abnormal heart septum morphology / MGI
  • abnormal epididymal fat pad morphology / MGI
  • abnormal common myeloid progenitor cell morphology / MGI
  • enhanced lipolysis / MGI
  • slow postnatal weight gain / MGI
  • decreased cranium height / MGI
  • decreased survivor rate / MGI
  • abnormal cardiac epithelial to mesenchymal transition / MGI
  • decreased subcutaneous adipose tissue amount / MGI
  • decreased white fat cell number / MGI
  • decreased liver triglyceride level / MGI
  • decreased total body fat amount / MGI
  • abnormal cranium size / MGI
  • myeloid hyperplasia / MGI
  • ventricular septal defect / MGI
  • atrial septal defect / MGI
  • atrioventricular septal defect / MGI
  • enlarged mitral valve / MGI
  • thick interventricular septum / MGI
  • mortality/aging / MGI
  • perinatal lethality, incomplete penetrance / MGI
  • embryonic lethality, complete penetrance / MGI
  • embryonic lethality between implantation and somite formation, complete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • embryonic lethality at implantation, incomplete penetrance / MGI
  • abnormal fat cell differentiation / MGI
  • decreased cranium length / MGI
  • decreased cardiac stroke volume / MGI
  • decreased trophectoderm cell proliferation / MGI
  • abnormal carbohydrate metabolism / MGI
  • increased adipocyte glucose uptake / MGI
  • depressed nasal bridge / MGI
  • increased inner canthal distance / MGI
  • broad snout / MGI

Literature references

  • LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity.;Tajan Mylène, Batut Aurélie, Cadoudal Thomas, Deleruyelle Simon, Le Gonidec Sophie, Saint Laurent Céline, Vomscheid Maëlle, Wanecq Estelle, Tréguer Karine, De Rocca Serra-Nédélec Audrey, Vinel Claire, Marques Marie-Adeline, Pozzo Joffrey, Kunduzova Oksana, Salles Jean-Pierre, Tauber Maithé, Raynal Patrick, Cavé Hélène, Edouard Thomas, Valet Philippe, Yart Armelle, ;2014;Proceedings of the National Academy of Sciences of the United States of America;111;E4494-503; 25288766

Information on how we integrate external resources can be found here

Order

Availabilities

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

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

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

Right strain for your research?

The information provided on this page is, to the best of EMMA’s knowledge, based on data supplied by the original provider. End users are responsible for reviewing these details and for validating the strain and its suitability for their experimental use.​
Not found what you were looking for? Search here for other strains available from EMMA.


Search
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).