Phenotypes associated with this allele

• Allele Symbol: Bgn^tm1Mfy
• Allele Name: targeted mutation 1, Marian F Young
• Allele ID: MGI:2153057
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bgn^tm1Mfy/Bgn^tm1Mfy	involves: 129S4/SvJae	MGI:5762924
cx2	Bgn^tm1Mfy/Bgn^+ Dcn^tm1Ioz/Dcn^tm1Ioz	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5308723
cx3	Bgn^tm1Mfy/Bgn^tm1Mfy Dcn^tm1Ioz/Dcn^+	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5308724
cx4	Bgn^tm1Mfy/Y Fmod^tm1Aol/Fmod^tm1Aol	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5698146
cx5	Bgn^tm1Mfy/Bgn^tm1Mfy Fmod^tm1Aol/Fmod^tm1Aol	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5698147
cx6	Bgn^tm1Mfy/Bgn^tm1Mfy Dcn^tm1Ioz/Dcn^tm1Ioz	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5308722
cx7	Bgn^tm1Mfy/Y Dcn^tm1Ioz/Dcn^tm1Ioz	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5308721
cx8	Bgn^tm1Mfy/Y Fmod^tm1Aol/Fmod^tm1Aol	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:3050192
cx9	Bgn^tm1Mfy/Bgn^tm1Mfy Epyc^tm1Mhok/Epyc^tm1Mhok	involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6J	MGI:5762923
ot10	Bgn^tm1Mfy/Y	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:5308726
ot11	Bgn^tm1Mfy/Y	involves: 129S4/SvJae * C57BL/6	MGI:2657256

Genotype
MGI:5762924

hm1

• Allelic Composition: Bgn^tm1Mfy/Bgn^tm1Mfy
• Genetic Background: involves: 129S4/SvJae

• ♀: 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

decreased collagen level ( J:222369 )

immune system

osteoarthritis ( J:222369 )

• in 3 of 4 mice at 9 months with ligament and tendon ossification

Genotype
MGI:5308723

cx2

• Allelic Composition: Bgn^tm1Mfy/Bgn⁺; Dcn^tm1Ioz/Dcn^tm1Ioz
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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: Bgn^tm1Mfy/Bgn^tm1Mfy; Dcn^tm1Ioz/Dcn⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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: Bgn^tm1Mfy/Y; Fmod^tm1Aol/Fmod^tm1Aol
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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)

growth/size/body

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: Bgn^tm1Mfy/Bgn^tm1Mfy; Fmod^tm1Aol/Fmod^tm1Aol
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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

growth/size/body

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

Genotype
MGI:5308722

cx6

• Allelic Composition: Bgn^tm1Mfy/Bgn^tm1Mfy; Dcn^tm1Ioz/Dcn^tm1Ioz
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

mortality/aging

perinatal lethality ( J:180914 )

♀

reproductive system

short gestation period ( J:180914 )

♀

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

decreased litter size ( J:180914 )

♀

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: Bgn^tm1Mfy/Y; Dcn^tm1Ioz/Dcn^tm1Ioz
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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

thin dermal layer ( J:91512 )

♂

decreased skin tensile strength ( J:91512 )

♂ • tearing of the coat after gentle stretching

♂ • skin ruptures are wider than in Dcn^tm1Ioz single homozygotes

reproductive system

male infertility ( J:180914 )

♂

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: Bgn^tm1Mfy/Y; Fmod^tm1Aol/Fmod^tm1Aol
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

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: Bgn^tm1Mfy/Bgn^tm1Mfy; Epyc^tm1Mhok/Epyc^tm1Mhok
• Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd * C57BL/6J

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

osteophytes ( J:222369 )

growth/size/body

decreased body weight ( J:222369 )

• at 9 months

homeostasis/metabolism

decreased collagen level ( J:222369 )

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: Bgn^tm1Mfy/Y
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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

thin dermal layer ( J:91512 )

♂

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: Bgn^tm1Mfy/Y
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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