Tll1^tm2.1Dgr
Targeted Allele Detail

Summary

• Symbol: Tll1^tm2.1Dgr
• Name: tolloid-like; targeted mutation 2.1, Daniel S Greenspan
• MGI ID: MGI:5629408
• Synonyms: Tll1^flox, Tll1^loxP
• Gene: Tll1 Location: Chr8:64467965-64659305 bp, - strand Genetic Position: Chr8, 32.19 cM
• Alliance: Tll1^tm2.1Dgr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:210366
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion
• Mutation details: A loxP site was inserted upstream of exon 6. An FRT-flanked neomycin resistance cassette with a 3' loxP site was inserted downstream of exon 6. Flp-mediated recombination removed the selection cassette and left exon 6 floxed. (J:210366)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cn1  Disease Model	Bmp1^tm1.1Dgr/Bmp1^tm1.1Dgr Tll1^tm2.1Dgr/Tll1^tm2.1Dgr Ndor1^Tg(UBC-cre/ERT2)1Ejb/0	involves: 129S/SvEv * 129S6/SvEvTac * C57BL/6 * SJL

Phenotypes:

Affected Systems	cn1
show or hide all annotated terms
adipose tissue	√
decreased gonadal fat pad weight	√
decreased inguinal fat pad weight	√
growth/size/body	√
decreased body size	√
slow postnatal weight gain	√
decreased body length	√
hematopoietic system	√
increased osteoclast cell number	√
homeostasis/metabolism	N
homeostasis/metabolism phenotype	N
immune system	√
increased osteoclast cell number	√
limbs/digits/tail	√
abnormal femur morphology	√
decreased femur compact bone thickness	√
abnormal trochanter morphology	√
short femur	√
femur fracture	√
abnormal tibia morphology	√
muscle	√
abnormal tendon collagen fibril morphology	√
skeleton	√
increased osteoclast cell number	√
abnormal femur morphology	√
decreased femur compact bone thickness	√
abnormal trochanter morphology	√
short femur	√
femur fracture	√
abnormal tibia morphology	√
abnormal tendon collagen fibril morphology	√
abnormal long bone diaphysis morphology	√
increased width of hypertrophic chondrocyte zone	√
disorganized long bone epiphyseal plate	√
increased long bone epiphyseal plate size	√
abnormal long bone metaphysis morphology	√
abnormal pelvic girdle bone morphology	√
rib fractures	√
kyphosis	√
abnormal bone marrow morphology	√
decreased bone mineral density of femur	√
decreased compact bone volume	√
abnormal osteoblast cell number	√
abnormal osteocyte morphology	√
abnormal osteocyte dendritic process morphology	√
abnormal osteocyte lacuna morphology	√
decreased bone trabecula number	√
increased bone trabecular spacing	√
increased trabecular bone mass	√
abnormal enthesis morphology	√
abnormal osteoid morphology	√
abnormal bone mineralization	√
osteomalacia	√
increased bone ossification	√
increased bone resorption	√
decreased femur stiffness	√
decreased bone strength	√
decreased femur maximal load	√
decreased femur yield load	√
decreased energy dissipated prior to femur fracture	√
fragile skeleton	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn1
osteogenesis imperfecta IDs osteogenesis imperfecta       DOID:12347 DOID:14708 ICD10CM:Q78.0 ICD9CM:756.51 MESH:D010013 NCI:C26837 OMIM:PS166200 ORDO:666 UMLS_CUI:C0029434 Close	√

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tll1 Mutation: 70 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Osteogenesis Imperfecta J:210366.

References

• Original: J:210366 Muir AM, et al., Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice. Hum Mol Genet. 2014 Jun 15;23(12):3085-101
• All: 5 reference(s)