- 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)
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
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