B6129S6-Tnfsf11tles/Flmg

Status

Available to order

EMMA IDEM:07072
International strain nameB6129S6-Tnfsf11tles/Flmg
Alternative nameB6129S6-Tnfsf11tles (synonym: RANKLG278R)
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolTnfsf11tles
Gene/Transgene symbolTnfsf11

Information from provider

ProviderEleni Douni
Provider affiliationInstitute of Immunology, B.S.R.C. Al. Fleming
Additional ownerProf. George Kollias, BSRC Alexander Fleming, Vari/Athens, Greece
Genetic informationENU-mutagenesis induced a point mutation (G to A) that results in the amino acid substitution of arginine for glycine at position 278 (G278R).
Phenotypic informationHomozygous mice develop osteopetrosis, lack of tooth eruption (the mice are toothless, which means that 10 days after birth it appears that they have no teeth), thymus hypoplasia, splenomegaly, absence of lymph nodes and premature lethality (60% died by the 7th week of age). Heterozygous mice are healthy.
References
  • A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.;Douni Eleni, Rinotas Vagelis, Makrinou Eleni, Zwerina Jochen, Penninger Josef M, Eliopoulos Elias, Schett Georg, Kollias George, ;2012;Human molecular genetics;21;784-98; 22068587
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreB.S.R.C. Alexander Fleming, Vari, Greece
Animals used for archivingheterozygous 129 x C57BL/6

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • osteopetrosis / MGI
  • failure of tooth eruption / MGI
  • abnormal trabecular bone morphology / MGI
  • enlarged spleen / MGI
  • postnatal growth retardation / MGI
  • thymus hypoplasia / MGI
  • premature death / MGI
  • decreased osteoclast cell number / MGI
  • abnormal osteoblast physiology / MGI
  • skeleton phenotype / MGI
  • absent lymph nodes / MGI
  • increased bone trabecula number / MGI
  • increased bone volume / MGI
  • increased bone mass / MGI
MGI phenotypes (gene matching)
  • increased bone mineral density / MGI
  • decreased bone mineral density / MGI
  • osteopetrosis / MGI
  • abnormal neurocranium morphology / MGI
  • failure of tooth eruption / MGI
  • abnormal trabecular bone morphology / MGI
  • abnormal long bone metaphysis morphology / MGI
  • kyphosis / MGI
  • abnormal cartilage morphology / MGI
  • abnormal chondrocyte morphology / MGI
  • decreased circulating calcium level / MGI
  • extramedullary hematopoiesis / MGI
  • decreased bone marrow cell number / MGI
  • mandible hypoplasia / MGI
  • abnormal immune system morphology / MGI
  • abnormal spleen morphology / MGI
  • enlarged spleen / MGI
  • dystrophic muscle / MGI
  • abnormal lung morphology / MGI
  • decreased body weight / MGI
  • decreased body size / MGI
  • abnormal maternal nurturing / MGI
  • postnatal growth retardation / MGI
  • abnormal immune system physiology / MGI
  • thymus hypoplasia / MGI
  • arrested T cell differentiation / MGI
  • reduced fertility / MGI
  • premature death / MGI
  • abnormal craniofacial bone morphology / MGI
  • abnormal cervical lymph node morphology / MGI
  • abnormal spleen marginal zone morphology / MGI
  • abnormal bone marrow morphology / MGI
  • short tibia / MGI
  • macrocytic anemia / MGI
  • abnormal cranial suture morphology / MGI
  • no phenotypic analysis / MGI
  • abnormal long bone epiphyseal plate morphology / MGI
  • increased width of hypertrophic chondrocyte zone / MGI
  • abnormal long bone epiphyseal plate proliferative zone / MGI
  • decreased lean body mass / MGI
  • supernumerary teeth / MGI
  • abnormal pelvic girdle bone morphology / MGI
  • decreased length of long bones / MGI
  • short vertebral column / MGI
  • increased spleen weight / MGI
  • decreased thymus weight / MGI
  • decreased osteoclast cell number / MGI
  • decreased bone resorption / MGI
  • abnormal osteoblast physiology / MGI
  • abnormal zygomatic bone morphology / MGI
  • small cranium / MGI
  • homeostasis/metabolism phenotype / MGI
  • immune system phenotype / MGI
  • skeleton phenotype / MGI
  • hematopoietic system phenotype / MGI
  • increased bone mass / MGI
  • abnormal mammary gland growth during pregnancy / MGI
  • increased long bone epiphyseal plate size / MGI
  • absent lymph nodes / MGI
  • decreased Langerhans cell number / MGI
  • decreased Peyer's patch number / MGI
  • small Peyer's patches / MGI
  • increased diameter of long bones / MGI
  • increased diameter of tibia / MGI
  • decreased mature B cell number / MGI
  • decreased immature B cell number / MGI
  • abnormal pro-B cell differentiation / MGI
  • absent peripheral lymph nodes / MGI
  • absent mesenteric lymph nodes / MGI
  • abnormal spleen B cell follicle morphology / MGI
  • increased spleen red pulp amount / MGI
  • decreased spleen white pulp amount / MGI
  • decreased cranium height / MGI
  • decreased interferon-gamma secretion / MGI
  • decreased interleukin-2 secretion / MGI
  • decreased interleukin-4 secretion / MGI
  • decreased interleukin-5 secretion / MGI
  • decreased interleukin-6 secretion / MGI
  • abnormal splenic cell ratio / MGI
  • abnormal thymus cell ratio / MGI
  • increased trabecular bone thickness / MGI
  • abnormal thymus epithelium morphology / MGI
  • absent cervical lymph nodes / MGI
  • abnormal hyoid bone body morphology / MGI
  • increased bone mineral content / MGI
  • lactation failure / MGI
  • increased bone trabecula number / MGI
  • decreased bone trabecula number / MGI
  • increased bone volume / MGI
  • abnormal tail length / MGI
  • small thymus medulla / MGI
  • abnormal areal bone mineral density / MGI
  • increased areal bone mineral density / MGI
  • abnormal long bone internal diameter / MGI
  • decreased internal diameter of femur / MGI
  • abnormal chondrocyte differentiation / MGI
  • increased bone mineralization / MGI
  • round face / MGI
  • thin neurocranium / MGI
  • optic canal stenosis / MGI

Literature references

  • A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.;Douni Eleni, Rinotas Vagelis, Makrinou Eleni, Zwerina Jochen, Penninger Josef M, Eliopoulos Elias, Schett Georg, Kollias George, ;2012;Human molecular genetics;21;784-98; 22068587

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 sperm. 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

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.

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