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

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

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.

EMMA conditions
Legally binding conditions for the transfer

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