Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phextm1.1Mkd mutation
(0 available);
any
Phex mutation
(21 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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homeostasis/metabolism
renal/urinary system
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• reduction in renal phosphate uptake at 8 weeks of age is similar to that in Phexhyp hemizygous male mice
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skeleton
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• the inner lacunocanalicular wall is buckled and enlarged
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• osteocyte lacunae are increased in size and randomly organized compared to those in control bone
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• osteomalacia characterized by hyperosteoidosis and an excess of unmineralilized osteoid
• severity of osteomalacia is similar to that of Phexhyp hemizygous male mice
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limbs/digits/tail
mortality/aging
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• tumor-free survival is 146.5 days
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neoplasm
skeleton
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dicer1tm1Mmk mutation
(0 available);
any
Dicer1 mutation
(94 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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skeleton
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• texture of mineralized is altered compared to in wild-type mice
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• cortical bone volume is increased compared to in wild-type mice
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hematopoietic system
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N |
• mice exhibit normal hematopoietic morphology
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Yy mutation
(0 available);
any
Ptch1 mutation
(115 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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mortality/aging
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• mice die within 3 months of age
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skeleton
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• focal bone overgrowth is frequently seen in long bones
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Yy mutation
(0 available);
any
Ptch1 mutation
(115 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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neoplasm
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N |
• mice do not exhibit any bone tumor formation up to 16 months of age
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mortality/aging
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Igf1rtm2Arge mutation
(1 available);
any
Igf1r mutation
(86 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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skeleton
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• phenotype is quantitatively similar, but less pronounced in males compared to females
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• calvarial cortical thickness is reduced to ~80% of control
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• significant reduction in number (67-69%) per bone perimeter is seen relative to controls
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• significant reduction in number (67-69%) per bone perimeter is seen relative to controls
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• trabecular separation is increased by 44% compared to controls
• in secondary spongiosa of distal femur in 6-week old females, trabecular separation is increased; trabecular connectivity is 35% lower than normal
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• trabecular bone volume is decreased by 46%
• in secondary spongiosa of distal femur in 6-week old females, cancellous bone volume is ~24% lower than controls
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• trabecular number is decreased by 29%
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• trabecular thickness is decreased by 25%
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• phenotype is quantitatively similar, but less pronounced in males compared to females
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• increase in osteoclast erosion surface accompanies increase in osteoid
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• amount of osteoid is significantly increased in female mutants at 6-weeks
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• mineral apposition rate is impaired in 6-week old females
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• in 3-week old females, epiphyseal bone formation rate is reduced to ~42% of control mice
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craniofacial
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• calvarial cortical thickness is reduced to ~80% of control
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immune system
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• significant reduction in number (67-69%) per bone perimeter is seen relative to controls
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• amount of osteoid is significantly increased in female mutants at 6-weeks
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hematopoietic system
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• significant reduction in number (67-69%) per bone perimeter is seen relative to controls
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• amount of osteoid is significantly increased in female mutants at 6-weeks
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cellular
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• increase in osteoclast erosion surface accompanies increase in osteoid
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mortality/aging
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• tumor-free survival is 398 days compared to 146.5 days in mutant mice wild-type for Nell1
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neoplasm
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• 85.2% decrease in the proliferative-index in tumors compared to tumors in mutant mice wild-type for Nell1
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• 66.1% decrease in tumor-associated vasculature compared to mutant mice wild-type for Nell1
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• 15.8% incidence compared to 52.4% incidence in mutant mice wild-type for Nell1
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skeleton
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• 15.8% incidence compared to 52.4% incidence in mutant mice wild-type for Nell1
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grem1tm1Ecan mutation
(0 available);
any
Grem1 mutation
(16 available)
Grem1tm1Rmh mutation
(1 available);
any
Grem1 mutation
(16 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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skeleton
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• in vitro osteoblast maturation is enhanced
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• 40% increase in trabecular bone volume due to increased bone thickness
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• the mineral apposition rate is enhanced
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• bone formation rate is 2.5 fold higher than in littermate controls
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cellular
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• in vitro osteoblast maturation is enhanced
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hematopoietic system
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N |
• mice exhibit normal hematopoietic stem cell and lymphoid progenitors morphology and physiology
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immune system
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(BGLAP-cre)1Clem mutation
(1 available)
Tnfsf11tm1.1Caob mutation
(1 available);
any
Tnfsf11 mutation
(30 available)
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skeleton
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• mice exhibit unresorbed cartilage unlike wild-type mice
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• widened growth plate in the femur
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craniofacial
growth/size/body
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amer1tm1.1Nbar mutation
(0 available);
any
Amer1 mutation
(2 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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skeleton
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N |
• no gross skeletal defects are detected
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ccn2tm1.1Vlcg mutation
(0 available);
any
Ccn2 mutation
(27 available)
Ccn2tm1Mga mutation
(0 available);
any
Ccn2 mutation
(27 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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skeleton
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• at 1 month of age osteopenia is seen
• at 1 month of age the phenotype is similar to that in Ctgftm1Mga single homozygotes
• at 6 months of age males show a decrease in bone volume secondary to a decrease in trabecular number
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• at 1 month and 6 months of age the number of trabeculae is reduced
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptch1tm1Yy mutation
(0 available);
any
Ptch1 mutation
(115 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
Trp53tm1Brd mutation
(5 available);
any
Trp53 mutation
(232 available)
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behavior/neurological
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• lower body paralysis due to spine tumors
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neoplasm
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• occasionally, pulmonary metastasis is seen in the lungs
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• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance
• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull
• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma
• the majority of mutants develop only bone tumors
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skeleton
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• mice develop bone tumors as early as 7 months of age, with incidence significantly increased at 11 months onwards with about 70% penetrance
• bone tumors are located mostly in the forelimbs and hindlimbs and frequently in the spine and are found less frequently in the ribs and skull
• primary tumors are composed of highly mineralized tissues and abundant osteoids with multinucleated cells resembling human osteoblastic osteosarcoma
• the majority of mutants develop only bone tumors
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bglap/Bglap2tm1Kry mutation
(1 available);
any
Bglap mutation
(13 available)
Ggcxtm1.1Kry mutation
(0 available);
any
Ggcx mutation
(36 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bglap/Bglap2tm1Kry mutation
(1 available);
any
Bglap2 mutation
(8 available)
Ggcxtm1.1Kry mutation
(0 available);
any
Ggcx mutation
(36 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation
(10 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
Trip11tm1.1Psmi mutation
(1 available);
any
Trip11 mutation
(99 available)
Trip11tm1.2Psmi mutation
(0 available);
any
Trip11 mutation
(99 available)
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cellular
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• humeral osteoblasts have no swelling of the endoplasmic reticulum, but do have an abnormal Golgi apparatus stack structure
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skeleton
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N |
• despite the osteoblast-specific disruption of a gene invovled in vesicle transport, these mice develop normally with both endochondral and intramembranous bones being of normal size and mineralization, and the osteoblasts having no swelling of the endoplasmic reticulum, although the osteoblast Golgi apparatus stack structure is not normal, and at 6 weeks of age micro CT measurements are normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clstn3tm1c(EUCOMM)Hmgu mutation
(0 available);
any
Clstn3 mutation
(65 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Notch2tm2.1Ecan mutation
(0 available);
any
Notch2 mutation
(97 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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skeleton
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• distal femurs exhibit an increase in osteoclast numbers
• however, the number of osteoblasts and bone formation rates are not different from controls
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• distal femurs exhibit an increase in eroded surface
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• cancellous and cortical bone osteopenia is seen in females, but not males, at 1 month of age
• a modest cortical osteopenia with cortical thinning and increased porosity is seen in both males and females at 4 months of age
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• cortical bone porosity is increased in females at 1 and 4 months of age and in males at 4 months of age
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• females exhibit decreased cortical bone volume in the femoral midshaft at 1 and 4 months of age, while males show a decrease at 4 months of age
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• cortical bone area is decreased in 1 month old females
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• cortical bone thickness is decreased in females at 1 and 4 months of age and in males at 4 months of age
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• females exhibit decreased trabecular bone volume in the distal femur at 1 and 4 months of age, with 1 month old females showing an approximate 50% reduction in cancellous bone volume secondary to a reduced number of trabeculae and connectivity density
• at 4 months of age, the skeletal phenotype of females is less pronounced, and cancellous bone volume/total volume is 30% lower than in controls
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• connectivity density is lower and structure model index is higher, indicating a prevalence of rod-like trabeculae over plate-like trabeculae
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• females exhibit decreased trabecular number in the distal femur at 1 and 4 months of age
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• females exhibit increased trabecular separation in the distal femur at 1 and 4 months of age
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• 1 month old females exhibit reduced connectivity density
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• females exhibit decreased trabecular thickness in the distal femur at 4 months of age
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• cortical bone shows suppressed endocortical mineral apposition rate
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hematopoietic system
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• distal femurs exhibit an increase in osteoclast numbers
• however, the number of osteoblasts and bone formation rates are not different from controls
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immune system
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• distal femurs exhibit an increase in osteoclast numbers
• however, the number of osteoblasts and bone formation rates are not different from controls
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limbs/digits/tail
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• distal femurs exhibit an increase in eroded surface
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prmt5tm2c(EUCOMM)Wtsi mutation
(1 available);
any
Prmt5 mutation
(44 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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skeleton
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N |
• no signs of scoliosis at P10 or 2 months of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ggcxtm1.1Kry mutation
(0 available);
any
Ggcx mutation
(36 available)
Tg(BGLAP-cre)1Clem mutation
(1 available)
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reproductive system
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N |
• mice do not exhibit hypergonadism with normal sperm count, testis weight, epididymis weight, and seminal vesicle weight
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homeostasis/metabolism
skeleton
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N |
• mice exhibit normal trabecular and cortical bone density, numbers of osteoblast and osteoblasts, bone formation rates and osteoclastic activity
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(BGLAP-cre)1Clem mutation
(1 available)
Vkorc1l1tm1.1Kry mutation
(0 available);
any
Vkorc1l1 mutation
(21 available)
Vkorc1tm1.1Kry mutation
(0 available);
any
Vkorc1 mutation
(6 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(BGLAP-cre)1Clem mutation
(1 available)
Vkorc1l1tm1.1Kry mutation
(0 available);
any
Vkorc1l1 mutation
(21 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(BGLAP-cre)1Clem mutation
(1 available)
Vkorc1tm1.1Kry mutation
(0 available);
any
Vkorc1 mutation
(6 available)
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homeostasis/metabolism
hematopoietic system
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N |
• unlike in null mice, no hemostatic defects were detected
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Analysis Tools