Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
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skeleton
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N |
• mice exhibit normal femur length
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• in 3 of 4 mice at 9 months with ligament and tendon ossification
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growth/size/body
homeostasis/metabolism
immune system
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• in 3 of 4 mice at 9 months with ligament and tendon ossification
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
Dcntm1Ioz mutation
(0 available);
any
Dcn mutation
(27 available)
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mortality/aging
reproductive system
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• increase in the risk of preterm birth compared to mice with at least one wild-type allele at either locus
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• rate of progression from plugging to viable pregnancy is reduced
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growth/size/body
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
Dcntm1Ioz mutation
(0 available);
any
Dcn mutation
(27 available)
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reproductive system
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• increase in the risk of preterm birth compared to single homozygous mutants and wild-type controls
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
Dcntm1Ioz mutation
(0 available);
any
Dcn mutation
(27 available)
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reproductive system
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• increase in the risk of preterm birth compared to single homozygous mutants and wild-type controls
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
Dcntm1Ioz mutation
(0 available);
any
Dcn mutation
(27 available)
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integument
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• dermal collagen texture is obviously looser, with wide spaces separating collagen bundles
• variability in fibril size is increased compared to either single mutant
• fibril cross-sectional profiles are often ragged or notched
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• tearing of the coat after gentle stretching
• skin ruptures are wider than in Dcntm1Ioz single homozygotes
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reproductive system
skeleton
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• shorter and wider long bones
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• shorter and wider long bones
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• all bone collagen fibrils display a serrated cross-sectional profiles and interfibrillar spaces are wider
• the typical collagenous texture observed in normal bone is replaced with a uniform, glassy appearance of the mineralized matrix in polished and coated samples
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• markedly osteopenic at 2 months of age
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immune system
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• mice develop first signs of temporomandibular joint osteoarthritis at 6 months of age and show loss of collagen type II expression at its restricted location and expression in the superficial layer of the condylar cartilage
(J:112779)
• mice develop accelerated temporomandibular joint osteoarthritis from 6 months of age, showing small vertical clefts in the condylar cartilage and partial disruption of the disk, and loss of regular columnar organization of chondrocytes
(J:117908)
• by 18 months of age, extensive articular cartilage erosion is seen resulting in a decrease in cartilage thickness
(J:117908)
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cellular
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• 2-fold increase in the percentage of apoptotic cells in the mandibular condylar cartilage at 3 months of age
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• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation
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skeleton
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• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation
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• 2-fold increase in the percentage of apoptotic cells in the mandibular condylar cartilage at 3 months of age
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• mice develop first signs of temporomandibular joint osteoarthritis at 6 months of age and show loss of collagen type II expression at its restricted location and expression in the superficial layer of the condylar cartilage
(J:112779)
• mice develop accelerated temporomandibular joint osteoarthritis from 6 months of age, showing small vertical clefts in the condylar cartilage and partial disruption of the disk, and loss of regular columnar organization of chondrocytes
(J:117908)
• by 18 months of age, extensive articular cartilage erosion is seen resulting in a decrease in cartilage thickness
(J:117908)
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• osteophytes start to form on the mandibular condyle and the glenoid fossa of the temporal bone from 6 months of age and are well developed by 18 months
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• extensive articular cartilage destruction by 18 months of age resulting in a decrease in cartilage thickness
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craniofacial
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• 2-fold increase in the percentage of apoptotic cells in the mandibular condylar cartilage at 3 months of age
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• mice develop first signs of temporomandibular joint osteoarthritis at 6 months of age and show loss of collagen type II expression at its restricted location and expression in the superficial layer of the condylar cartilage
(J:112779)
• mice develop accelerated temporomandibular joint osteoarthritis from 6 months of age, showing small vertical clefts in the condylar cartilage and partial disruption of the disk, and loss of regular columnar organization of chondrocytes
(J:117908)
• by 18 months of age, extensive articular cartilage erosion is seen resulting in a decrease in cartilage thickness
(J:117908)
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cellular
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• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation
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craniofacial
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• from 6 months of age, mice develop accelerated temporomandibular joint osteoarthritis compared to wild-type mice, showing small vertical clefts in the condylar cartilage and partial disruption of the disk, and loss of regular columnar organization of chondrocytes
• by 18 months of age, extensive articular cartilage erosion is seen resulting in a decrease in cartilage thickness
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immune system
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• from 6 months of age, mice develop accelerated temporomandibular joint osteoarthritis compared to wild-type mice, showing small vertical clefts in the condylar cartilage and partial disruption of the disk, and loss of regular columnar organization of chondrocytes
• by 18 months of age, extensive articular cartilage erosion is seen resulting in a decrease in cartilage thickness
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skeleton
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• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation
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• from 6 months of age, mice develop accelerated temporomandibular joint osteoarthritis compared to wild-type mice, showing small vertical clefts in the condylar cartilage and partial disruption of the disk, and loss of regular columnar organization of chondrocytes
• by 18 months of age, extensive articular cartilage erosion is seen resulting in a decrease in cartilage thickness
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• osteophytes start to form on the mandibular condyle and the glenoid fossa of the temporal bone from 6 months of age and are well developed by 18 months
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• extensive articular cartilage destruction by 18 months of age resulting in a decrease in cartilage thickness
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behavior/neurological
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• at 3 weeks, double mutants display an abnormal gait characterized by reduced flexibility of knee and ankle joints ("dragging hindlimb"); this phenotype is not observed in either single mutant
• the abnormal gait is transient and occurs on and off on the right or left side; it is not progressive and does not hinder movement in the cages
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growth/size/body
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• double mutants are viable, fertile, and grossly normal but smaller than wild-type or either single mutant
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immune system
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• double mutants display a severe premature osteoarthritis and are significantly more affected than wild-type and single mutants at 3 and 9 months
• osteoarthritis starts at 1-2 months and progresses rapidly: there is complete erosion of the articular cartilage in the femur and tibia between 3 and 6 months
• osteoarthritis may be accelerated by moderate levels of forced treadmill running
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muscle
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• consistent with an excessive number of very small collagen fibrils, tendons from 1-month-old double mutants show reduced stiffness, decreased joint flexibility, and gait impairment
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• double mutants show an increased number of very small collagen fibrils (<40 nm) in the quadriceps tendon
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• consistent with an excessive number of very small collagen fibrils, tendons from 1-month-old double mutants show reduced stiffness
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skeleton
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• double mutants display a severe premature osteoarthritis and are significantly more affected than wild-type and single mutants at 3 and 9 months
• osteoarthritis starts at 1-2 months and progresses rapidly: there is complete erosion of the articular cartilage in the femur and tibia between 3 and 6 months
• osteoarthritis may be accelerated by moderate levels of forced treadmill running
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• consistent with an excessive number of very small collagen fibrils, tendons from 1-month-old double mutants show reduced stiffness, decreased joint flexibility, and gait impairment
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• double mutants show an increased number of very small collagen fibrils (<40 nm) in the quadriceps tendon
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• consistent with an excessive number of very small collagen fibrils, tendons from 1-month-old double mutants show reduced stiffness
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• at one month, double mutants show decreased joint flexibility
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• double mutants exhibit a dramatic ectopic tendon ossification in knees and ankles which is significantly greater and occurs much earlier than in single mutants
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
Epyctm1Mhok mutation
(0 available);
any
Epyc mutation
(21 available)
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skeleton
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• severe in all mice with ligament and tendon ossification as early as 3 months of age
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• in female and male mice at 9 months
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growth/size/body
homeostasis/metabolism
immune system
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• severe in all mice with ligament and tendon ossification as early as 3 months of age
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limbs/digits/tail
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• in female and male mice at 9 months
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Allelic
Composition |
Bgntm1Mfy/Y
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Genetic
Background |
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
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integument
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N |
• despite collagen fibril abnormalities no defect in skin tensile strength is detected
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• marked variability of fibril diameter both between fibrils and along the length of a fibril
• frequent occurrence of fibrils with irregular cross-sectional profiles
• increase in average fibril diameter and range of diameters
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skeleton
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• in the tail tendon collagen fibrils show a unimodal rather than bimodal frequency distribution resulting from a relative decrease in number of larger fibrils and a relative increase in number of smaller fibrils
• in the tail tendon the fibril size range is increased and the average diameter of tendon collagen fibrils is reduced
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• both average collagen fibril diameter and fibril size range are increased
• collagen fibrils have irregular cross-sectional profiles
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muscle
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• in the tail tendon collagen fibrils show a unimodal rather than bimodal frequency distribution resulting from a relative decrease in number of larger fibrils and a relative increase in number of smaller fibrils
• in the tail tendon the fibril size range is increased and the average diameter of tendon collagen fibrils is reduced
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Allelic
Composition |
Bgntm1Mfy/Y
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Genetic
Background |
involves: 129S4/SvJae * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation
(2 available);
any
Bgn mutation
(8 available)
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growth/size/body
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• mutant males display no patterning defects and grow normally until 3 months of age
• at 6 months, their body weight is significantly reduced; however, this difference disappears by 9 months of age
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immune system
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• by 3 months, mutants develop a statistically significant level of osteoarthritis
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limbs/digits/tail
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• mutants have a wider angle between the femoral neck and the greater trochanter
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• at 6 months, femur length is slightly shorter in mutant males
• femurs become progressively shorter at 9 months of age
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muscle
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• relative to wild-type, mutant mice display absence of large collagen fibrils (>190 nm) and a rather uniform fibril diameter range in the quadriceps tendon
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skeleton
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• by 3 months, mutants develop a statistically significant level of osteoarthritis
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• mutants have a wider angle between the femoral neck and the greater trochanter
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• at 6 months, femur length is slightly shorter in mutant males
• femurs become progressively shorter at 9 months of age
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• relative to wild-type, mutant mice display absence of large collagen fibrils (>190 nm) and a rather uniform fibril diameter range in the quadriceps tendon
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• the cortical thickness of the diaphysis is reduced in long bones
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• the epiphyseal trabecular structures of long bones are thinner, fewer and poorly connected to each other
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• the metaphyseal trabecular structures of long bones are thinner, fewer and poorly connected to each other
• similar changes in trabecular structures are detected in the vertebrae
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• mineralizing surface, mineral apposition rate and bone formation rates are all significantly decreased in mutant mice
• although total ash weight (an indicator of mineral content) is reduced in mutant long bones, there is no significant reduction in bone ash content
• the mineral crystal size and shape appears normal relative to wild-type
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• cortical thickness is reduced (20%) compared with the reduction in trabecular bone volume (60-70%)
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• mutants show a reduction in osteoblast numbers and activity
• in contrast, osteoclast numbers and activity remain normal
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• mutants show a reduction in the amount and density of trabecular bone, both in epiphyses and in metaphyses
• trabeculae are distributed over a shorter distance from the growth plate, and cortical thickness is reduced
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• mutants show a reduction in bone mass, which becomes more prominent at 6- and 9-months
• bone volume/total tissue volume, an index of trabecular bone mass, is reduced to below 50% of wild-type values at 3 and 9 months of age
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• at 3 months, mutants knees show a significant ectopic tendon ossification that does not significantly increase with age
• in contrast, mutant ankles are not significantly different from wild-type at either 3 or 9 months of age
• males are affected more than females
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Analysis Tools