- 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
B6129S6-Tnfsf11tles/Flmg
Status | Available to order |
EMMA ID | EM:07072 |
International strain name | B6129S6-Tnfsf11tles/Flmg |
Alternative name | B6129S6-Tnfsf11tles (synonym: RANKLG278R) |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Tnfsf11tles, |
Gene/Transgene symbol | Tnfsf11 |
Information from provider
Provider | Eleni Douni |
Provider affiliation | Institute of Immunology, B.S.R.C. Al. Fleming |
Additional owner | Prof. George Kollias, BSRC Alexander Fleming, Vari/Athens, Greece |
Genetic information | ENU-mutagenesis induced a point mutation (G to A) that results in the amino acid substitution of arginine for glycine at position 278 (G278R). |
Phenotypic information | Homozygous 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 |
|
Homozygous fertile | no |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | B.S.R.C. Alexander Fleming, Vari, Greece |
Animals used for archiving | heterozygous 129 x C57BL/6 |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive malignant osteopetrosis / Orphanet_667
MGI phenotypes (allele matching)
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
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