All Phenotypes Tg(Col2a1-cre/ERT)KA3Smac MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tg(Col2a1-cre/ERT)KA3Smac
transgene insertion KA3, Susan Mackem
MGI:3665440

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ext1^tm1.1Vcs/Ext1^tm1.1Vcs Tg(Col2a1-cre/ERT)KA3Smac/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:6101207
cn2	Casr^tm1Wch/Casr^tm1Wch Tg(Col2a1-cre/ERT)KA3Smac/0	involves: 129S4/SvJae * C57BL/6 * FVB/N	MGI:5306894
cn3	Tsc1^tm1Djk/Tsc1^tm1Djk Tg(Col2a1-cre/ERT)KA3Smac/0	involves: 129S4/SvJae * FVB/N	MGI:7280953
cn4	Ext1^tm1Yama/Ext1^tm1Yama Tg(Col2a1-cre/ERT)KA3Smac/0	involves: 129S5/SvEvBrd * FVB/N	MGI:4818630
cn5	Evc2^tm2.1Mis/Evc2^tm2.1Mis Tg(Col2a1-cre/ERT)KA3Smac/0	involves: 129X1/SvJ * FVB/N	MGI:5698048
cn6	Myl3^{tm1a(EUCOMM)Hmgu}/Myl3^{tm1a(EUCOMM)Hmgu} Tg(Col2a1-cre/ERT)KA3Smac/0	involves: C57BL/6J * C57BL/6N * FVB/N	MGI:7578782
cn7	Pbxip1^tm1Cya/Pbxip1^tm1Cya Tg(Col2a1-cre/ERT)KA3Smac/0	involves: FVB/N	MGI:6363124
tg8	Tg(Col2a1-cre/ERT)KA3Smac/Tg(Col2a1-cre/ERT)KA3Smac	involves: FVB/N	MGI:3714363
tg9	Tg(Col2a1-cre/ERT)KA3Smac/0	involves: FVB/N	MGI:3714364

Allelic Composition	Ext1^tm1.1Vcs/Ext1^tm1.1Vcs Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1^tm1.1Vcs mutation (0 available); any Ext1 mutation (65 available)
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)

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

neoplasm

increased osteochondroma incidence ( J:242977 )

• mice injected with tamoxifen at P7 or P10 develop osteochondromas in the cranial base along the synchondrosis growth plates over time

• by 4 weeks after tamoxifen injection, the large cartilaginous outgrowths protrude away from the synchondrosis surface into the nasal and cranial sides which display a typical growth plate-like organization and a thick perichondrium

• 5 to 6 months after tamoxifen injection, ossified osteochondromas protrude away from the cranial base surface toward the brain and nasal cavities at the sites of both the intrasphenoidal and spheno-occipital synchondroses

• mice develop large osteochondromas in ribs and long bones after tamoxifen injection

craniofacial

abnormal basicranium morphology ( J:242977 )

• 2 and 3 weeks post-tamoxifen injection, the perichondrial contour of the cranial base is distorted and uneven, and round and enlarged cells occupy its inner half and protrude into the outer half

• cranial base of tamoxifen-treated mice is thickened at the location of osteochondromas

• zones of chondrocyte maturation in the cranial base progressively lose their sharp delineating and cellular characteristics

abnormal cranial synchondrosis ( J:242977 )

• synchondroses become disorganized over time in tamoxifen-injected mice

skeleton

abnormal basicranium morphology ( J:242977 )

• 2 and 3 weeks post-tamoxifen injection, the perichondrial contour of the cranial base is distorted and uneven, and round and enlarged cells occupy its inner half and protrude into the outer half

• cranial base of tamoxifen-treated mice is thickened at the location of osteochondromas

• zones of chondrocyte maturation in the cranial base progressively lose their sharp delineating and cellular characteristics

abnormal cranial synchondrosis ( J:242977 )

• synchondroses become disorganized over time in tamoxifen-injected mice

increased osteochondroma incidence ( J:242977 )

• mice injected with tamoxifen at P7 or P10 develop osteochondromas in the cranial base along the synchondrosis growth plates over time

• mice develop large osteochondromas in ribs and long bones after tamoxifen injection

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary multiple exostoses		DOID:206	OMIM:133700 OMIM:133701 OMIM:600209	J:242977

Allelic Composition	Casr^tm1Wch/Casr^tm1Wch Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casr^tm1Wch mutation (0 available); any Casr mutation (61 available)
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)

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

skeleton

abnormal skeleton development ( J:180651 )

• tamoxifen-treated mice exhibit reduced skeleton length compared with control mice

increased width of hypertrophic chondrocyte zone ( J:180651 )

• in tamoxifen-treated mice

decreased bone mineralization ( J:180651 )

• decreased mineralization in tamoxifen-treated mice

Allelic Composition	Tsc1^tm1Djk/Tsc1^tm1Djk Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background	involves: 129S4/SvJae * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)
Tsc1^tm1Djk mutation (2 available); any Tsc1 mutation (71 available)

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

growth/size/body

decreased body weight ( J:273713 )

• at P21 and P60

abnormal chest morphology ( J:273713 )

• flat chest

decreased body length ( J:273713 )

• at P21 and P60

skeleton

abnormal costal cartilage morphology ( J:273713 )

• enlarged

abnormal rib morphology ( J:273713 )

• immature bony structure is seen at P60

abnormal intervertebral disk morphology ( J:273713 )

• classic structure is absent at 4 and 8 weeks of age

• at 1 week of age the primary ossification center is abnormal

abnormal annulus fibrosus morphology ( J:273713 )

• absent at 4 and 8 weeks of age

abnormal intervertebral disk development ( J:273713 )

• chrondrogenesis is elevated in the growth plate but hypertrophic chondrocytes are rare

absent nucleus pulposus ( J:273713 )

• at 4 and 8 weeks of age

small intervertebral disk ( J:273713 )

• disk height is reduced at 4 and 8 weeks of age

kyphosis ( J:273713 )

small vertebrae ( J:273713 )

• smaller and shorter

spinal stenosis ( J:273713 )

• loss of intervertebral space and congenital spinal canal stenosis

• treatment with rapamycin by daily gavage for 4 weeks rescues the spinal deformity

abnormal compact bone thickness ( J:273713 )

• micro-CT analysis suggests enhanced thickness

abnormal trabecular bone morphology ( J:273713 )

• micro-CT analysis suggest enhanced density of the trabecular bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinal disease		DOID:0060564		J:273713

Allelic Composition	Ext1^tm1Yama/Ext1^tm1Yama Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background	involves: 129S5/SvEvBrd * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ext1^tm1Yama mutation (0 available); any Ext1 mutation (65 available)
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)

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

skeleton

abnormal skeleton morphology ( J:161395 )

• without tamoxifen treatment, mice exhibit multiple hereditary exostose-like skeletal defects unlike wild-type mice

dislocated radius head ( J:161395 )

• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice

bowed radius ( J:161395 )

• 92% of mice exhibit bowing of the radius

increased diameter of radius ( J:161395 )

• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice

increased diameter of ulna ( J:161395 )

• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice

increased osteochondroma incidence ( J:161395 )

• without tamoxifen treatment, all mice develop osteochondroma in the humerus, radius, ulna, digits, femur, tibia, fibula, vertebrae, and rib bones unlike wild-type mice

• at P7 to P28 in the ribs

• at P14 in the distal femur

• osteochondromas resemble ectopic growth plates rather than true neoplasm

scoliosis ( J:161395 )

• in 58% of mice

exostosis ( J:161395 )

• mice exhibit bony protrusions with a cartilage cap in the wrist, fibula, shoulder, and rib unlike wild-type mice

• at P14, mice exhibit exostosis unlike wild-type mice

• at P28, mice exhibit multiple protrusions closely resembling osteochondroma unlike in wild-type mice

abnormal cartilage morphology ( J:161395 )

• mice exhibit mild abnormalities of the joint cartilage unlike wild-type mice

abnormal cartilage development ( J:161395 )

• at P14,formation of cartilage occurs in abnormal location compared to in wild-type mice

• at P21, mice exhibit overgrowth and deformity of the cartilage compared with wild-type mice and small cartilaginous islands for in the epiphysis

abnormal epiphyseal plate morphology ( J:161395 )

• mild

• at P21, mice exhibit small cartilaginous islands for in the epiphysis unlike in wild-type mice

neoplasm

increased osteochondroma incidence ( J:161395 )

• without tamoxifen treatment, all mice develop osteochondroma in the humerus, radius, ulna, digits, femur, tibia, fibula, vertebrae, and rib bones unlike wild-type mice

• at P7 to P28 in the ribs

• at P14 in the distal femur

• osteochondromas resemble ectopic growth plates rather than true neoplasm

growth/size/body

decreased body height ( J:161395 )

limbs/digits/tail

abnormal forelimb morphology ( J:161395 )

• mice exhibit bowing of the forearm unlike wild-type mice

dislocated radius head ( J:161395 )

• 92% of mice exhibit bowing of the radius and subluxation/dislocation of the radial head unlike wild-type mice

bowed radius ( J:161395 )

• 92% of mice exhibit bowing of the radius

increased diameter of radius ( J:161395 )

• at P14, mice exhibit an increase in the width of the distal radius compared to wild-type mice

increased diameter of ulna ( J:161395 )

• at P14, mice exhibit an increase in the width of the distal ulna compared to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary multiple exostoses		DOID:206	OMIM:133700 OMIM:133701 OMIM:600209	J:161395

Allelic Composition	Evc2^tm2.1Mis/Evc2^tm2.1Mis Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background	involves: 129X1/SvJ * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Evc2^tm2.1Mis mutation (0 available); any Evc2 mutation (47 available)
Tg(Col2a1-cre/ERT)KA3Smac mutation (1 available)

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

growth/size/body

disproportionate dwarf ( J:226455 )

• skeletal staining with alizarin red and alcian blue indicated a decrease of limb length

limbs/digits/tail

short humerus ( J:226455 )