Phenotypes associated with this allele

• Allele Symbol: Tg(Col2a1-cre)1Rsjo
• Allele Name: transgene insertion 1, Randall S Johnson
• Allele ID: MGI:2386649
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Apc^tm1Rsmi/Apc^tm1Rsmi Tg(Col2a1-cre)1Rsjo/0	involves: 129P2/OlaHsd * FVB/N	MGI:3848497
cn2	Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Tg(Col2a1-cre)1Rsjo/?	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3621466
cn3	Hif1a^tm1Rsjo/Hif1a^tm3Rsjo Tg(Col2a1-cre)1Rsjo/?	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:3621467
cn4	Mmp13^tm1Werb/Mmp13^tm1Werb Tg(Col2a1-cre)1Rsjo/0	involves: 129S2/SvPas	MGI:3522357
cn5	Pth1r^tm2Hmk/Pth1r^tm2Hmk Tg(Col2a1-cre)1Rsjo/0	involves: 129S4/SvJae * C57BL/6 * FVB/N	MGI:3584040
cn6	Mir140^tm1.1Tkob/Mir140^tm1.1Tkob Pdgfra^tm8Sor/Pdgfra^tm8Sor Tg(Col2a1-cre)1Rsjo/0	involves: 129S4/SvJae * C57BL/6 * FVB/N * SJL	MGI:5086265
cn7	Gnas^tm3Lsw/Gnas^tm3Lsw Tg(Col2a1-cre)1Rsjo/0	involves: 129S6/SvEvTac * FVB/N	MGI:3575290
cn8	Pdgfra^tm8Sor/Pdgfra^tm8Sor Tg(Col2a1-cre)1Rsjo/0	involves: FVB/N	MGI:5086266

Genotype
MGI:3848497

cn1

• Allelic Composition: Apc^tm1Rsmi/Apc^tm1Rsmi; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

Skeletogenesis is severely impaired in Apc^tm1Rsmi/Apc^tm1Rsmi Tg(Col2a1-cre)1Rsjo/0 mice

mortality/aging

perinatal lethality, incomplete penetrance ( J:149225 )

• most mice die by the first day after birth

postnatal lethality, complete penetrance ( J:149225 )

• no mice survive to one month of age

skeleton

abnormal cranium morphology ( J:149225 )

• at E16.5, mineralization is observed in the hind skull unlike in wild-type mice

abnormal mandible morphology ( J:149225 )

• at E12.5

abnormal humerus morphology ( J:149225 )

• no chondrogenic and osteogenic differentiation occurs in the humerus

scapular bone hypoplasia ( J:149225 )

absent sternum ( J:149225 )

abnormal rib morphology ( J:149225 )

• ribs are characterized by inadequate orientation, size, and shape unlike in wild-type mice

• proximal ribs are severely misshapen compared to in wild-type mice

short ribs ( J:149225 )

• at E16.5, ribs are thicker and shorter than normal

abnormal chondrocyte morphology ( J:149225 )

• at E16.5, chondrocytes in the nasal septum and endochondral bone dedifferentiate unlike in wild-type mice

abnormal skeleton development ( J:149225 )

• at E12.5, the axial skeleton contains patchy and irregular cartilaginous structures that do not organize in vertebrae unlike in wild-type mice

• no chondrogenic and osteogenic differentiation occurs in the humerus

• no cartilaginous primordial of the pelvic bone are observed unlike in wild-type mice

• based on marker expression, differentiation of skeletal precursors in long bones and vertebrae is inhibited while osteoblastogenesis in the proximal ribs is enhanced

enhanced osteoblast differentiation ( J:149225 )

• osteoblastogenesis in the proximal ribs is enhanced

abnormal cartilage development ( J:149225 )

• mice fail to develop a cartilaginous molds of both the mandibles and occipital bone unlike in wild-type mice

abnormal bone mineralization ( J:149225 )

• at E16.5, mineralization of proximal ribs is enhanced compared to in wild-type mice

• at E16.5, mineralization is observed in the hind skull unlike in wild-type mice

abnormal endochondral bone ossification ( J:149225 )

• all endochondral bones are misshaped and lack structural integrity unlike in wild-type mice

limbs/digits/tail

abnormal forelimb morphology ( J:149225 )

• forelimbs are severely truncated with distorted cartilage rudiments unlike in wild-type mice

• distal forelimb structures are agenetic and replaced with irregular cartilaginous structure

abnormal humerus morphology ( J:149225 )

• no chondrogenic and osteogenic differentiation occurs in the humerus

short forelimb ( J:149225 )

• forelimbs are severely truncated

abnormal hindlimb morphology ( J:149225 )

• severely truncated and fail to form bone

short hindlimb ( J:149225 )

• hindlimbs are severely truncated

abnormal limb development ( J:149225 )

• at E12.5, mice display limb outgrowth abnormalities

growth/size/body

abnormal abdominal wall morphology ( J:149225 )

• at E14.5 and E16.5, the abdominal cavity is open unlike in wild-type mice

abnormal thoracic cavity morphology ( J:149225 )

• at E14.5 and E16.5, the thoracic cavity is open unlike in wild-type mice

• the thoracic basket fails to form

decreased body length ( J:149225 )

• at E14.5 and E16.5

decreased fetal size ( J:149225 )

• at E14.5 and E16.5

craniofacial

abnormal craniofacial morphology ( J:149225 )

• at E14.5 and E16.5

abnormal cranium morphology ( J:149225 )

• at E16.5, mineralization is observed in the hind skull unlike in wild-type mice

abnormal mandible morphology ( J:149225 )

• at E12.5

integument

blistering ( J:149225 )

• at E14.5 and at E16.5, mice develop large skin blisters especially on dorso-lumbar regions unlike in wild-type mice

cellular

enhanced osteoblast differentiation ( J:149225 )

• osteoblastogenesis in the proximal ribs is enhanced

Genotype
MGI:3621466

cn2

• Allelic Composition: Hif1a^tm3Rsjo/Hif1a^tm3Rsjo; Tg(Col2a1-cre)1Rsjo/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:72709 )

• die within a few hours of birth

respiratory system

abnormal tracheal ciliated epithelium morphology ( J:72709 )

• partially collapsed

abnormal tracheal cartilage morphology ( J:72709 )

• chondrocytes are abnormal and disorganized and the tracheal ring is malformed

respiratory failure ( J:72709 )

• fail to fully inflate the lungs

skeleton

abnormal tracheal cartilage morphology ( J:72709 )

• chondrocytes are abnormal and disorganized and the tracheal ring is malformed

abnormal long bone morphology ( J:72709 )

• the border between the chondrocytic hypertrophic zone and the primary spongiosa is irregular and disorganized

• however, cells along the proximal surface of the bone appear normal

disorganized long bone epiphyseal plate ( J:72709 )

• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes

increased long bone epiphyseal plate size ( J:72709 )

• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes

decreased length of long bones ( J:72709 )

• shorter long bones

abnormal sternum morphology ( J:72709 )

• no definable cellular structures are seen in the center of the sternebrae or at the at the chondrosternal junctions

• collagen type II and type X expression is absent from the center of the sternum and at the chondrosternal junctions at P0

abnormal sternocostal joint morphology ( J:72709 )

• no definable cellular structures are seen at the chondrosternal junctions

• collagen type II and type X expression are absent from the chondrosternal junctions at P0

abnormal thoracic cage shape ( J:72709 )

• rib cage is wider and misshapen

abnormal cartilage development ( J:72709 )

• massive cell death is seen at the center of cartilagenous elements and a subtle delay in chondrocyte differentiation is seen in the periphery

abnormal long bone epiphyseal plate proliferative zone ( J:72709 )

• in the long bones, an area in the center of the proliferative columnar layer is hypocellular or contains abnormal cells with pyknotic nuclei

abnormal long bone hypertrophic chondrocyte zone ( J:72709 )

• in the long bones, an area in the center of the upper hypertrophic zone is hypocellular or contains abnormal cells with pyknotic nuclei

cardiovascular system

abnormal angiogenesis ( J:72709 )

• ectopic angiogenesis seen in necrotic areas of long bone growth plates

embryo

decreased embryo size ( J:72709 )

limbs/digits/tail

short limbs ( J:72709 )

• short, deformed limbs

growth/size/body

decreased embryo size ( J:72709 )

Genotype
MGI:3621467

cn3

• Allelic Composition: Hif1a^tm1Rsjo/Hif1a^tm3Rsjo; Tg(Col2a1-cre)1Rsjo/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:72709 )

• die within a few hours of birth

respiratory system

abnormal tracheal ciliated epithelium morphology ( J:72709 )

• partially collapsed

abnormal tracheal cartilage morphology ( J:72709 )

• chondrocytes are abnormal and disorganized and the tracheal ring is malformed

respiratory failure ( J:72709 )

• fail to fully inflate the lungs

skeleton

abnormal tracheal cartilage morphology ( J:72709 )

• chondrocytes are abnormal and disorganized and the tracheal ring is malformed

abnormal long bone morphology ( J:72709 )

• the border between the chondrocytic hypertrophic zone and the primary spongiosa is irregular and disorganized

• however, cells along the proximal surface of the bone appear normal

disorganized long bone epiphyseal plate ( J:72709 )

• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes

increased long bone epiphyseal plate size ( J:72709 )

• long bone growth plates are misshapen and wider with disrupted organization of the chondrocytes

decreased length of long bones ( J:72709 )

• shorter long bones

abnormal sternum morphology ( J:72709 )

• no definable cellular structures are seen in the center of the sternebrae or at the at the chondrosternal junctions

• collagen type II and type X expression is absent from the center of the sternum and at the chondrosternal junctions at P0

abnormal sternocostal joint morphology ( J:72709 )

• no definable cellular structures are seen at the chondrosternal junctions

• collagen type II and type X expression are absent from the chondrosternal junctions at P0

abnormal thoracic cage shape ( J:72709 )

• rib cage is wider and misshapen

abnormal cartilage development ( J:72709 )

• massive cell death is seen at the center of cartilagenous elements and a subtle delay in chondrocyte differentiation is seen in the periphery

abnormal long bone epiphyseal plate proliferative zone ( J:72709 )

• in the long bones, an area in the center of the proliferative columnar layer is hypocellular or contains abnormal cells with pyknotic nuclei

abnormal long bone hypertrophic chondrocyte zone ( J:72709 )

• in the long bones, an area in the center of the upper hypertrophic zone is hypocellular or contains abnormal cells with pyknotic nuclei

cardiovascular system

abnormal angiogenesis ( J:72709 )

• ectopic angiogenesis seen in necrotic areas of long bone growth plates

embryo

decreased embryo size ( J:72709 )

limbs/digits/tail

short limbs ( J:72709 )

• short, deformed limbs

growth/size/body

decreased embryo size ( J:72709 )

Genotype
MGI:3522357

cn4

• Allelic Composition: Mmp13^tm1Werb/Mmp13^tm1Werb; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: 129S2/SvPas

skeleton

increased width of hypertrophic chondrocyte zone ( J:94460 )

• the number of hypertrophic chondrocytes is increased

abnormal trabecular bone morphology ( J:94460 )

• the spicules of trabecular bone are irregular in shape and length, however trabecular bone volume is normal

Genotype
MGI:3584040

cn5

• Allelic Composition: Pth1r^tm2Hmk/Pth1r^tm2Hmk; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

skeleton

decreased long bone epiphyseal plate size ( J:77683 )

• tibial growth plate is shortened

• the periarticular and columnar regions are reduced despite increased proliferation in the periarticular region

abnormal sternum morphology ( J:77683 )

• the sternum is occupied by hypertrophic cells at E16.5

decreased chondrocyte number ( J:77683 )

• tibial growth plate lacks most of the columnar chondrocytes however the hypertrophic layer is normal

chondrodystrophy ( J:77683 )

• the tibial growth plate is shortened and lacks most of the columnar chondrocytes

Genotype
MGI:5086265

cn6

• Allelic Composition: Mir140^tm1.1Tkob/Mir140^tm1.1Tkob; Pdgfra^tm8Sor/Pdgfra^tm8Sor; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N * SJL

skeleton

abnormal skeleton morphology ( J:174096 )

• the skeletal defects observed in Mir140^tm1.1Tkob homozygotes are not rescued

decreased length of long bones ( J:174096 )

• compared with wild-type mice and Mir140^tm1.1Tkob homozygotes

growth/size/body

decreased body size ( J:174096 )

Genotype
MGI:3575290

cn7

• Allelic Composition: Gnas^tm3Lsw/Gnas^tm3Lsw; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:97230 )

• all newborn pups died minutes after birth

craniofacial

domed cranium ( J:97230 )

homeostasis/metabolism

cyanosis ( J:97230 )

• all newborn pups had cyanosis

limbs/digits/tail

abnormal tibia morphology ( J:97230 )

• tibial epiphyses at P0.5 were decreased in length

• at P0.5, ectopic cartilage was present in the upper one-third portion of the frontal tibia and was clearly spatially separated from epiphyseal plate cartilage

short limbs ( J:97230 )

respiratory system

abnormal pulmonary alveolus morphology ( J:97230 )

• lung alveoli did not contain air and did not exhibit any obvious abnormalities in alveolar organization

skeleton

domed cranium ( J:97230 )

abnormal tibia morphology ( J:97230 )

• tibial epiphyses at P0.5 were decreased in length

• at P0.5, ectopic cartilage was present in the upper one-third portion of the frontal tibia and was clearly spatially separated from epiphyseal plate cartilage

abnormal long bone epiphyseal plate morphology ( J:97230 )

• the layer of periarticular chondrocytes was shortened, and the layer of proliferating chondrocytes was markedly shortened, whereas the size of the zone of hypertrophic chondrocytes was unaffected, and no differences in chondrocyte proliferation rate or cellular density within these zones was observed

• pool of proliferating chondrocytes was reduced, whereas the pool of postmitotic (hypertrophic) chondrocytes was maintained, indicating accelerated hypertrophic differentiation of growth plate chondrocytes

abnormal long bone epiphyseal plate proliferative zone ( J:97230 )

• the layer of proliferating chondrocytes was markedly shortened however no difference in the chondrocyte proliferation rate or cellular density was observed

abnormal long bone epiphysis morphology ( J:97230 )

• tibial epiphyses at P0.5 were decreased in length

abnormal cartilage development ( J:97230 )

• beginning at E18.5, mutants developed ectopic cartilage, comprised of prehypertrophic and hypertrophic chondrocytes, between the authentic cortical bone and the perichondrium in the tibia

• at P0.5, ectopic cartilage was present in the upper one-third portion of the frontal tibia and was clearly spatially separated from epiphyseal plate cartilage

Genotype
MGI:5086266

cn8

• Allelic Composition: Pdgfra^tm8Sor/Pdgfra^tm8Sor; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: FVB/N

skeleton

decreased cranium height ( J:174096 )

abnormal skeleton development ( J:174096 )

• at P0.5, mice exhibit slightly greater mineralization of the talus compared with wild-type mice

• at P1.5, mineralization of the hyoid horn is more advanced than in wild-type mice

growth/size/body

decreased body weight ( J:174096 )

• mild

craniofacial

decreased cranium height ( J:174096 )