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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Bgntm1Mfy
targeted mutation 1, Marian F Young
MGI:2153057
Summary 11 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Bgntm1Mfy/Bgntm1Mfy involves: 129S4/SvJae MGI:5762924
cx2
 		Bgntm1Mfy/Bgn+
Dcntm1Ioz/Dcntm1Ioz 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:5308723
cx3
 		Bgntm1Mfy/Bgntm1Mfy
Dcntm1Ioz/Dcn+ 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:5308724
cx4
 		Bgntm1Mfy/Y
Fmodtm1Aol/Fmodtm1Aol 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:5698146
cx5
 		Bgntm1Mfy/Bgntm1Mfy
Fmodtm1Aol/Fmodtm1Aol 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:5698147
cx6
 		Bgntm1Mfy/Bgntm1Mfy
Dcntm1Ioz/Dcntm1Ioz 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:5308722
cx7
 		Bgntm1Mfy/Y
Dcntm1Ioz/Dcntm1Ioz 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:5308721
cx8
 		Bgntm1Mfy/Y
Fmodtm1Aol/Fmodtm1Aol 		involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 MGI:3050192
cx9
 		Bgntm1Mfy/Bgntm1Mfy
Epyctm1Mhok/Epyctm1Mhok 		involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6J MGI:5762923
ot10
 		Bgntm1Mfy/Y involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:5308726
ot11
 		Bgntm1Mfy/Y involves: 129S4/SvJae * C57BL/6 MGI:2657256


Genotype
MGI:5762924
hm1
Allelic
Composition		 Bgntm1Mfy/Bgntm1Mfy
Genetic
Background		 involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
skeleton phenotype ( J:222369 )
N
• mice exhibit normal femur length
osteoarthritis ( J:222369 )
• in 3 of 4 mice at 9 months with ligament and tendon ossification

growth/size/body
decreased body weight ( J:222369 )
• at 9 months

homeostasis/metabolism

immune system
osteoarthritis ( J:222369 )
• in 3 of 4 mice at 9 months with ligament and tendon ossification




Genotype
MGI:5308723
cx2
Allelic
Composition		 Bgntm1Mfy/Bgn+
Dcntm1Ioz/Dcntm1Ioz
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Dcntm1Ioz mutation (0 available); any Dcn mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
early parturition ( J:180914 )
• increase in the risk of preterm birth compared to single homozygous mutants and wild-type controls




Genotype
MGI:5308724
cx3
Allelic
Composition		 Bgntm1Mfy/Bgntm1Mfy
Dcntm1Ioz/Dcn+
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Dcntm1Ioz mutation (0 available); any Dcn mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
delayed parturition ( J:180914 )
• increase in the risk of preterm birth compared to single homozygous mutants and wild-type controls




Genotype
MGI:5698146
cx4
Allelic
Composition		 Bgntm1Mfy/Y
Fmodtm1Aol/Fmodtm1Aol
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Fmodtm1Aol mutation (1 available); any Fmod mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
accelerated temporomandibular joint osteoarthritis ( J:112779 , J:117908 )
• 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)

cellular
increased apoptosis ( J:112779 )
• 2-fold increase in the percentage of apoptotic cells in the mandibular condylar cartilage at 3 months of age
decreased chondrocyte proliferation ( J:117908 )
• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation

skeleton
decreased chondrocyte proliferation ( J:117908 )
• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation
abnormal mandible morphology ( J:112779 )
• 2-fold increase in the percentage of apoptotic cells in the mandibular condylar cartilage at 3 months of age
accelerated temporomandibular joint osteoarthritis ( J:112779 , J:117908 )
• 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)
osteophytes ( J:117908 )
• 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
abnormal articular cartilage morphology ( J:117908 )
• extensive articular cartilage destruction by 18 months of age resulting in a decrease in cartilage thickness

craniofacial
abnormal mandible morphology ( J:112779 )
• 2-fold increase in the percentage of apoptotic cells in the mandibular condylar cartilage at 3 months of age
accelerated temporomandibular joint osteoarthritis ( J:112779 , J:117908 )
• 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)

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:112779 , J:117908




Genotype
MGI:5698147
cx5
Allelic
Composition		 Bgntm1Mfy/Bgntm1Mfy
Fmodtm1Aol/Fmodtm1Aol
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Fmodtm1Aol mutation (1 available); any Fmod mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
decreased chondrocyte proliferation ( J:117908 )
• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation

craniofacial
accelerated temporomandibular joint osteoarthritis ( J:117908 )
• 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

immune system
accelerated temporomandibular joint osteoarthritis ( J:117908 )
• 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

skeleton
decreased chondrocyte proliferation ( J:117908 )
• PCNA staining is stronger in 3 month old temporomandibular joint fibrocartilage, indicating decreased chondrocyte proliferation
accelerated temporomandibular joint osteoarthritis ( J:117908 )
• 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
osteophytes ( J:117908 )
• 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
abnormal articular cartilage morphology ( J:117908 )
• extensive articular cartilage destruction by 18 months of age resulting in a decrease in cartilage thickness




Genotype
MGI:5308722
cx6
Allelic
Composition		 Bgntm1Mfy/Bgntm1Mfy
Dcntm1Ioz/Dcntm1Ioz
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Dcntm1Ioz mutation (0 available); any Dcn mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

reproductive system
early parturition ( J:180914 )
• increase in the risk of preterm birth compared to mice with at least one wild-type allele at either locus
reduced female fertility ( J:180914 )
• rate of progression from plugging to viable pregnancy is reduced

growth/size/body
decreased body weight ( J:180914 )
• at P1

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
female reproductive system disease DOID:229 J:180914




Genotype
MGI:5308721
cx7
Allelic
Composition		 Bgntm1Mfy/Y
Dcntm1Ioz/Dcntm1Ioz
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Dcntm1Ioz mutation (0 available); any Dcn mutation (28 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
thin hypodermis ( J:91512 )
• uniformly atrophic
abnormal cutaneous collagen fibril morphology ( J:91512 )
• 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
decreased skin tensile strength ( J:91512 )
• tearing of the coat after gentle stretching
• skin ruptures are wider than in Dcntm1Ioz single homozygotes

reproductive system

skeleton
decreased length of long bones ( J:91512 )
• shorter and wider long bones
increased diameter of long bones ( J:91512 )
• shorter and wider long bones
abnormal bone collagen fibril morphology ( J:91512 )
• 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
decreased bone mineral density ( J:91512 )
• markedly osteopenic at 2 months of age
decreased compact bone mass ( J:91512 )
• at 2 months of age
decreased trabecular bone mass ( J:91512 )
• at 2 months of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Ehlers-Danlos syndrome spondylodysplastic type 2 DOID:0050802 OMIM:615349
 J:91512




Genotype
MGI:3050192
cx8
Allelic
Composition		 Bgntm1Mfy/Y
Fmodtm1Aol/Fmodtm1Aol
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Fmodtm1Aol mutation (1 available); any Fmod mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal gait ( J:76203 )
• 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

growth/size/body
decreased body size ( J:76203 )
• double mutants are viable, fertile, and grossly normal but smaller than wild-type or either single mutant

immune system
osteoarthritis ( J:76203 )
• 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

muscle
abnormal tendon morphology ( J:76203 )
• 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
abnormal tendon collagen fibril morphology ( J:76203 )
• double mutants show an increased number of very small collagen fibrils (<40 nm) in the quadriceps tendon
decreased tendon stiffness ( J:76203 )
• consistent with an excessive number of very small collagen fibrils, tendons from 1-month-old double mutants show reduced stiffness

skeleton
osteoarthritis ( J:76203 )
• 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
abnormal tendon morphology ( J:76203 )
• 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
abnormal tendon collagen fibril morphology ( J:76203 )
• double mutants show an increased number of very small collagen fibrils (<40 nm) in the quadriceps tendon
decreased tendon stiffness ( J:76203 )
• consistent with an excessive number of very small collagen fibrils, tendons from 1-month-old double mutants show reduced stiffness
abnormal joint morphology ( J:76203 )
• at one month, double mutants show decreased joint flexibility
abnormal bone ossification ( J:76203 )
• double mutants exhibit a dramatic ectopic tendon ossification in knees and ankles which is significantly greater and occurs much earlier than in single mutants




Genotype
MGI:5762923
cx9
Allelic
Composition		 Bgntm1Mfy/Bgntm1Mfy
Epyctm1Mhok/Epyctm1Mhok
Genetic
Background		 involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
Epyctm1Mhok mutation (0 available); any Epyc mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
osteoarthritis ( J:222369 )
• severe in all mice with ligament and tendon ossification as early as 3 months of age
short femur ( J:222369 )
• in female and male mice at 9 months

growth/size/body
decreased body weight ( J:222369 )
• at 9 months

homeostasis/metabolism

immune system
osteoarthritis ( J:222369 )
• severe in all mice with ligament and tendon ossification as early as 3 months of age

limbs/digits/tail
short femur ( J:222369 )
• in female and male mice at 9 months




Genotype
MGI:5308726
ot10
Allelic
Composition		 Bgntm1Mfy/Y
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
integument phenotype ( J:91512 )
N
• despite collagen fibril abnormalities no defect in skin tensile strength is detected
abnormal cutaneous collagen fibril morphology ( J:91512 )
• 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

skeleton
abnormal tendon collagen fibril morphology ( J:91512 )
• 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
abnormal bone collagen fibril morphology ( J:91512 )
• both average collagen fibril diameter and fibril size range are increased
• collagen fibrils have irregular cross-sectional profiles

muscle
abnormal tendon collagen fibril morphology ( J:91512 )
• 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




Genotype
MGI:2657256
ot11
Allelic
Composition		 Bgntm1Mfy/Y
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bgntm1Mfy mutation (2 available); any Bgn mutation (9 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body weight ( J:49647 )
• 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

immune system
osteoarthritis ( J:76203 )
• by 3 months, mutants develop a statistically significant level of osteoarthritis

limbs/digits/tail
abnormal femur morphology ( J:49647 )
• mutants have a wider angle between the femoral neck and the greater trochanter
short femur ( J:49647 )
• at 6 months, femur length is slightly shorter in mutant males
• femurs become progressively shorter at 9 months of age

muscle
abnormal tendon collagen fibril morphology ( J:76203 )
• 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

skeleton
osteoarthritis ( J:76203 )
• by 3 months, mutants develop a statistically significant level of osteoarthritis
abnormal femur morphology ( J:49647 )
• mutants have a wider angle between the femoral neck and the greater trochanter
short femur ( J:49647 )
• at 6 months, femur length is slightly shorter in mutant males
• femurs become progressively shorter at 9 months of age
abnormal tendon collagen fibril morphology ( J:76203 )
• 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
abnormal long bone diaphysis morphology ( J:49647 )
• the cortical thickness of the diaphysis is reduced in long bones
abnormal long bone epiphysis morphology ( J:49647 )
• the epiphyseal trabecular structures of long bones are thinner, fewer and poorly connected to each other
abnormal long bone metaphysis morphology ( J:49647 )
• 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
decreased bone mineral content ( J:49647 )
• 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
decreased compact bone thickness ( J:49647 )
• cortical thickness is reduced (20%) compared with the reduction in trabecular bone volume (60-70%)
decreased osteoblast cell number ( J:49647 )
• mutants show a reduction in osteoblast numbers and activity
• in contrast, osteoclast numbers and activity remain normal
abnormal trabecular bone morphology ( J:49647 )
• 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
osteoporosis ( J:49647 )
• 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
abnormal bone ossification ( J:76203 )
• 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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Send questions and comments to User Support. 		last database update
11/12/2024
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