Phenotypes associated with this allele

• Allele Symbol: Tg(Col2a1-cre)1Asz
• Allele Name: transgene insertion 1, Attila Aszodi
• Allele ID: MGI:3050410
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Errfi1^tm3.1Gvw/Errfi1^tm3.1Gvw Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5575862
cn2	Fn1^tm1Ref/Fn1^tm1Ref Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3770653
cn3	Ilk^tm3Ref/Ilk^tm3Ref Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3653597
cn4	Itgb1^tm1Ref/Itgb1^tm2Ref Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3770651
cn5	Itgb1^tm1Ref/Itgb1^tm1Ref Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3770652
cn6	Col27a1^tm1.1Rpbh/Col27a1^tm1.1Rpbh Tg(Col2a1-cre)1Asz/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5315597
cn7	Pfn1^tm1Ref/Pfn1^tm1Ref Tg(Col2a1-cre)1Asz/0	involves: 129T2/SvEms * C57BL/6 * CBA	MGI:3843222

Genotype
MGI:5575862

cn1

• Allelic Composition: Errfi1^tm3.1Gvw/Errfi1^tm3.1Gvw; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Osteoarthritis-like phenotype in Errfi1^tm3.1Gvw/Errfi1^tm3.1Gvw Tg(Col2a1-cre)1Asz/0 and Errfi1^tm3.1Gvw/Errfi1^tm3.1Gvw Tg(CMV-cre)1Cgn/0 mice

skeleton

joint swelling ( J:206807 )

• subchondral cyst formation in knee joints of 3 months to 1 year old animals but rarely affected the ankle and temporal-mandibular joint.

osteoarthritis ( J:206807 )

• in knee joints of 3 months to 1 year old animals but rarely affecting the ankle or temporal-mandibular joints, even after 15 months of age

abnormal femur morphology ( J:206807 )

• two- to three-fold higher chondrocyte number in femur

increased chondrocyte number ( J:206807 )

• two- to three-fold higher in femurs and tibias

abnormal articular cartilage morphology ( J:206807 )

• in knee joints of 3 months to 1 year old animals but rarely in the ankle even after 15 months of age

• thickening, especially at older age at 15.3 months

• more collagen II is present

• osteophytes in knee joints of 3 months to 1 year old animals

abnormal endochondral bone ossification ( J:206807 )

• formation of osteophytes in the knee joints of 3 months to 1 year old animals

immune system

osteoarthritis ( J:206807 )

• in knee joints of 3 months to 1 year old animals but rarely affecting the ankle or temporal-mandibular joints, even after 15 months of age

limbs/digits/tail

abnormal femur morphology ( J:206807 )

• two- to three-fold higher chondrocyte number in femur

homeostasis/metabolism

joint swelling ( J:206807 )

• subchondral cyst formation in knee joints of 3 months to 1 year old animals but rarely affected the ankle and temporal-mandibular joint.

Genotype
MGI:3770653

cn2

• Allelic Composition: Fn1^tm1Ref/Fn1^tm1Ref; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

skeleton

skeleton phenotype ( J:85994 )

N • mice do not display any skeletal abnormalities

Genotype
MGI:3653597

cn3

• Allelic Composition: Ilk^tm3Ref/Ilk^tm3Ref; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:110783 )

• 70% of homozygotes die within 1-2 hours of birth due to cleft palate; remainder die within 10-24 hours of birth from respiratory complications

growth/size/body

cleft palate ( J:110783 )

• 70% of newborns have cleft palate and die within 1-2 hours of birth

abnormal chest morphology ( J:110783 )

• thorax is small and narrow suggesting reduced ribcage size is reason for lung hypoplasia

disproportionate dwarf ( J:110783 )

• newborn mice have smaller bones of the axial, craniofacial and appendicular skeleton

decreased fetal size ( J:110783 )

• at E17.5 and at the newborn stage, conditional null embryos are 5% shorter than controls

craniofacial

cleft palate ( J:110783 )

• 70% of newborns have cleft palate and die within 1-2 hours of birth

skeleton

abnormal long bone hypertrophic chondrocyte zone ( J:110783 )

decreased long bone epiphyseal plate size ( J:110783 )

• growth plates are significantly shortened in mutants

• in newborns, size reduction is more pronounced with disorganized arrangement of columnar chondrocytes and rounding of the chondrocytes rather than the normal flattened morphology

disorganized long bone epiphyseal plate ( J:110783 )

• in newborns, size reduction is more pronounced with disorganized arrangement of columnar chondrocytes and rounding of the chondrocytes rather than the normal flattened morphology

cellular

abnormal cell adhesion ( J:110783 )

• in culture, mutant chondrocytes show reduction of adhesion to fibronectin or collagen I by 30% or 32% respectively compared to controls

abnormal cell cycle ( J:110783 )

• number of cyclin-D positive nuclei is reduced by 40% in the growth plates

decreased cell proliferation ( J:110783 )

• chondrocyte proliferation in the growth plate is reduced by 29% in mutants

respiratory system

pulmonary hypoplasia ( J:110783 )

• remaining mutants suffer from lung hypoplasia and die due to breathing problems

digestive/alimentary system

cleft palate ( J:110783 )

• 70% of newborns have cleft palate and die within 1-2 hours of birth

Genotype
MGI:3770651

cn4

• Allelic Composition: Itgb1^tm1Ref/Itgb1^tm2Ref; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

cellular

increased chondrocyte apoptosis ( J:85994 )

decreased chondrocyte proliferation ( J:85994 )

• mice exhibit progressive reduction of chondrocyte proliferation (a 25% reduction at birth, 60% reduction at 3 weeks and no proliferation at 6 weeks)

mortality/aging

neonatal lethality, complete penetrance ( J:85994 )

• most mice die shortly after birth due to respiratory distress

• however, 3 of 223 mice survive

skeleton

increased chondrocyte apoptosis ( J:85994 )

decreased chondrocyte proliferation ( J:85994 )

• mice exhibit progressive reduction of chondrocyte proliferation (a 25% reduction at birth, 60% reduction at 3 weeks and no proliferation at 6 weeks)

abnormal long bone epiphyseal plate morphology ( J:85994 )

• at E17.5, mice exhibit reductions of the half tibia length (17.2% reduction), the distance between the growth plate and the middle of diaphysis (43.2% reduction), the length of the bone marrow zone (45% reduction) and the length of the hypertrophic zone (15% reduction) compared to wild-type mice

• at E17.5, the resting zone is increased in length by 10% compared to wild-type mice

• the growth plate is severely disorganized with large and round-shaped chondrocytes failing to glide over each other and form columns as in wild-type mice

• at 6 weeks of age, growth plates are completely disorganized and broadened

• however, the length of the proliferative zone and the total growth plate height are normal

abnormal long bone hypertrophic chondrocyte zone ( J:85994 )

• at E17.5, mice exhibit 15% reduction in the length of the hypertrophic zone compared to wild-type mice

• while the hyperproliferative zone is reduced, the prehyperproliferative zone is increased

decreased length of long bones ( J:85994 )

• at E17.5, bones are severely shortened

• at birth, long bones in surviving mice are short and broad

short humerus ( J:85994 )

• at E14.5

short tibia ( J:85994 )

• at E17.5, mice exhibit 17.2% reduction of the half tibia length compared to wild-type mice

increased diameter of long bones ( J:85994 )

• at birth, long bones in surviving mice are short and broad

abnormal cartilage development ( J:85994 )

• cartilage differentiation is impaired

abnormal chondrocyte morphology ( J:85994 )

• chondrocyte spreading is defective and adhesion to collagen and laminin is absent while adhesion to fibronectin is reduced 55% compared to in wild-type mice

• however, chondrocytes bind vitronectin normally

decreased chondrocyte number ( J:85994 )

• mice exhibit progressive reduction of chondrocyte proliferation (a 25% reduction at birth, 60% reduction at 3 weeks and no proliferation at 6 weeks) and increased apoptosis resulting in fewer chondrocytes than in wild-type mice

chondrodystrophy ( J:85994 )

abnormal bone ossification ( J:85994 )

• surviving mice fail to exhibit secondary ossification centers in the epiphysis

abnormal bone mineralization ( J:85994 )

• mineralization is delayed as evidenced by absent ossification centers in cervical vertebrae

growth/size/body

cleft palate ( J:85994 )

• in 50% of mice

decreased body length ( J:85994 )

• at birth

disproportionate dwarf ( J:85994 )

• mice that survive develop progressive dwarfism with a 40% reduction in skeletal length by 9 weeks of age

craniofacial

cleft palate ( J:85994 )

• in 50% of mice

respiratory system

respiratory distress ( J:85994 )

• at birth

limbs/digits/tail

short humerus ( J:85994 )

• at E14.5

short tibia ( J:85994 )

• at E17.5, mice exhibit 17.2% reduction of the half tibia length compared to wild-type mice

digestive/alimentary system

cleft palate ( J:85994 )

• in 50% of mice

Genotype
MGI:3770652

cn5

• Allelic Composition: Itgb1^tm1Ref/Itgb1^tm1Ref; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

cellular

increased chondrocyte apoptosis ( J:85994 )

decreased chondrocyte proliferation ( J:85994 )

• mice exhibit progressive reduction of chondrocyte proliferation (a 25% reduction at birth, 60% reduction at 3 weeks and no proliferation at 6 weeks)

mortality/aging

neonatal lethality, complete penetrance ( J:85994 )

• most mice die shortly after birth due to respiratory distress

• however, 3 of 223 mice survive

skeleton

increased chondrocyte apoptosis ( J:85994 )

decreased chondrocyte proliferation ( J:85994 )

• mice exhibit progressive reduction of chondrocyte proliferation (a 25% reduction at birth, 60% reduction at 3 weeks and no proliferation at 6 weeks)

abnormal long bone epiphyseal plate morphology ( J:85994 )

• at E17.5, mice exhibit reductions of the half tibia length (17.2% reduction), the distance between the growth plate and the middle of diaphysis (43.2% reduction), the length of the bone marrow zone (45% reduction) and the length of the hypertrophic zone (15% reduction) compared to wild-type mice

• at E17.5, the resting zone is increased in length by 10% compared to wild-type mice

• however, the length of the proliferative zone and the total growth plate height are normal

• the growth plate is severely disorganized with large and round-shaped chondrocytes failing to glide over each other and form columns as in wild-type mice

• at 6 weeks of age, growth plates are completely disorganized and broadened

abnormal long bone hypertrophic chondrocyte zone ( J:85994 )

• at E17.5, mice exhibit 15% reduction in the length of the hypertrophic zone compared to wild-type mice

• while the hyperproliferative zone is reduced, the prehyperproliferative zone is increased

decreased length of long bones ( J:85994 )

• at E17.5, bones are severely shortened

• at birth, long bones in surviving mice are short and broad

short humerus ( J:85994 )

• at E14.5

short tibia ( J:85994 )

• at E17.5, mice exhibit 17.2% reduction of the half tibia length compared to wild-type mice

increased diameter of long bones ( J:85994 )

• at birth, long bones in surviving mice are short and broad

abnormal cartilage development ( J:85994 )

• cartilage differentiation is impaired

abnormal chondrocyte morphology ( J:85994 )

• chondrocyte spreading is defective and adhesion to collagen and laminin is absent while adhesion to fibronectin is reduced 55% compared to in wild-type mice

• however, chondrocytes bind vitronectin normally

decreased chondrocyte number ( J:85994 )

• mice exhibit progressive reduction of chondrocyte proliferation (a 25% reduction at birth, 60% reduction at 3 weeks and no proliferation at 6 weeks) and increased apoptosis resulting in fewer chondrocytes than in wild-type mice

chondrodystrophy ( J:85994 )

abnormal bone ossification ( J:85994 )

• surviving mice fail to exhibit secondary ossification centers in the epiphysis

abnormal bone mineralization ( J:85994 )

• mineralization is delayed as evidenced by absent ossification centers in cervical vertebrae

growth/size/body

cleft palate ( J:85994 )

• in 50% of mice

decreased body length ( J:85994 )

• at birth

disproportionate dwarf ( J:85994 )

• mice that survive develop progressive dwarfism with a 40% reduction in skeletal length by 9 weeks of age

craniofacial

cleft palate ( J:85994 )

• in 50% of mice

respiratory system

respiratory distress ( J:85994 )

• at birth

limbs/digits/tail

short humerus ( J:85994 )

• at E14.5

short tibia ( J:85994 )

• at E17.5, mice exhibit 17.2% reduction of the half tibia length compared to wild-type mice

digestive/alimentary system

cleft palate ( J:85994 )

• in 50% of mice

Genotype
MGI:5315597

cn6

• Allelic Composition: Col27a1^tm1.1Rpbh/Col27a1^tm1.1Rpbh; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

skeleton

domed cranium ( J:182341 )

• slight

decreased length of long bones ( J:182341 )

abnormal pelvic girdle bone morphology ( J:182341 )

• distortion of the pelvis

abnormal thoracic cage shape ( J:182341 )

• slight distortion

kyphosis ( J:182341 )

• mild thoracic kyphosis

abnormal epiphyseal plate morphology ( J:182341 )

• severely disrupted in perinatal mice but proliferative chondrocytes show some signs of flattening and columnar organization

• architecture remains disrupted at 3 weeks of age

abnormal long bone epiphyseal plate proliferative zone ( J:182341 )

• in some cases flattened proliferative chondrocytes are orientated at right angles to their normal plane and located between the vertical stacks of cells

• absence of a translucent pericellular matrix in mice at 3 weeks of age

growth/size/body

short snout ( J:182341 )

decreased body size ( J:182341 )

• strikingly dwarfed

decreased body weight ( J:182341 )

• about half the body weight of littermate controls

respiratory system

respiratory system phenotype ( J:182341 )

N • unlike in null mice, breathing is normal

reproductive system

reproductive system phenotype ( J:182341 )

N • males are fertile

craniofacial

domed cranium ( J:182341 )

• slight

short snout ( J:182341 )

Genotype
MGI:3843222

cn7

• Allelic Composition: Pfn1^tm1Ref/Pfn1^tm1Ref; Tg(Col2a1-cre)1Asz/0
• Genetic Background: involves: 129T2/SvEms * C57BL/6 * CBA

mortality/aging

decreased survivor rate ( J:148004 )

• about 25% of mice die within 10 days of birth while the remaining 75% have a normal lifespan

postnatal lethality, incomplete penetrance ( J:148004 )

• about 25% of mice die within 10 days of birth

skeleton

decreased length of long bones ( J:148004 )

• moderate decrease in the length of long bones in newborns

• decrease in length becomes more severe with age

short humerus ( J:148004 )

short femur ( J:148004 )

kyphoscoliosis ( J:148004 )

• severe kyphoscoliosis develops in mice that die by P10

abnormal skeleton development ( J:148004 )

• reduction in growth of the long bones

• growth of the skull is abnormal

abnormal long bone epiphyseal plate proliferative zone ( J:148004 )

• proliferating chondrocytes have a more rounded morphology and the columnar structure is disorganized in newborns

• these abnormalities become more pronounced with age

• at 4 weeks of age the height of the proliferative zone is reduced to a few cells and significantly fewer cells are proliferating

abnormal long bone hypertrophic chondrocyte zone ( J:148004 )

• in newborns the percentage of binucleated cells is increased and this percentage continues to increase with age

• at 4 weeks of age many cells are unusually enlarged and appear binucleated

increased width of hypertrophic chondrocyte zone ( J:148004 )

• increased height in newborns

abnormal chondrocyte differentiation ( J:148004 )

• isolated chondrocytes remain rounded, failing to form and extend lamellipodia

abnormal chondrocyte physiology ( J:148004 )

• isolated chondrocytes appear to have a defect in cytokinesis and show a marked delay in daughter cell separation

growth/size/body

decreased body size ( J:148004 )

• mice that die by P10 are smaller

• progressive development of dwarfism in surviving mice

decreased body weight ( J:148004 )

decreased body length ( J:148004 )

behavior/neurological

weakness ( J:148004 )

• mice that die by P10 are weaker

limbs/digits/tail

short humerus ( J:148004 )

short femur ( J:148004 )