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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Bblntm1(KOMP)Wtsi
targeted mutation 1, Wellcome Trust Sanger Institute
MGI:4419262
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Bblntm1(KOMP)Wtsi/Bblntm1(KOMP)Wtsi involves: C57BL/6N MGI:6473313
ht2
 		Bblntm1(KOMP)Wtsi/Bbln+ involves: C57BL/6N MGI:6473316


Genotype
MGI:6473313
hm1
Allelic
Composition		 Bblntm1(KOMP)Wtsi/Bblntm1(KOMP)Wtsi
Genetic
Background		 involves: C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bblntm1(KOMP)Wtsi mutation (1 available); any Bbln mutation (5 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
skeleton phenotype ( J:296689 )
N
• normal osteoblast surface and bone formation rate in femur
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type
• normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro
increased osteoclast cell number ( J:296689 )
• longer survival (reduced apoptosis) of osteoclasts differentiated from BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro
• in femur
abnormal femur morphology ( J:296689 )
• increase in bone erosion
decreased trabecular bone volume ( J:296689 )
• decrease in bone volume of trabecular bone/ tissue volume (%) in male femur at age 9 weeks, getting more pronounced at 6 months
• however, normal bone mass/volume in females, whether ovariectomized or not
decreased bone trabecula number ( J:296689 )
• reduced trabecular number in femur at age 9 weeks, getting more pronounced at 6 months
increased bone trabecular spacing ( J:296689 )
• increased trabecular separation
increased bone resorption ( J:296689 )
• increase in bone erosion in femur

cellular
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type
• normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

limbs/digits/tail
abnormal femur morphology ( J:296689 )
• increase in bone erosion

immune system
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type
• normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro
increased osteoclast cell number ( J:296689 )
• longer survival (reduced apoptosis) of osteoclasts differentiated from BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro
• in femur

hematopoietic system
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type
• normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro
increased osteoclast cell number ( J:296689 )
• longer survival (reduced apoptosis) of osteoclasts differentiated from BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro
• in femur




Genotype
MGI:6473316
ht2
Allelic
Composition		 Bblntm1(KOMP)Wtsi/Bbln+
Genetic
Background		 involves: C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bblntm1(KOMP)Wtsi mutation (1 available); any Bbln mutation (5 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type

skeleton
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type

immune system
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type

hematopoietic system
abnormal osteoclast differentiation ( J:296689 )
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro
• differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory