Phenotypes associated with this allele

• Allele Symbol: Tg(Col2a1-cre)1Xya
• Allele Name: transgene insertion 1, Xiao Yang
• Allele ID: MGI:3829498
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pten^tm2Mak/Pten^tm2Mak Tg(Col2a1-cre)1Xya/?	involves: 129P2/OlaHsd	MGI:3829655
cn2	Fgfr2^tm3Cxd/Fgfr2^+ Tg(Col2a1-cre)1Xya/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6415627
cn3	Myl3^tm1a(EUCOMM)Hmgu/Myl3^tm1a(EUCOMM)Hmgu Tg(Col2a1-cre)1Xya/0	involves: C57BL/6J * C57BL/6N	MGI:7578779

Genotype
MGI:3829655

cn1

• Allelic Composition: Pten^tm2Mak/Pten^tm2Mak; Tg(Col2a1-cre)1Xya/?
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

premature death ( J:143447 )

• death before 18 months from progressive hind limb paralysis

growth/size/body

increased body length ( J:143447 )

• bodies longer than controls at birth

limbs/digits/tail

long tail ( J:143447 )

• 11-14% longer than controls at 40 days of age

skeleton

abnormal long bone morphology ( J:143447 )

• width of long bones is noticeably greater

• lengths of tibia and femur are normal at 50 days of age

abnormal long bone epiphysis morphology ( J:143447 )

• 14 cartilaginous nodules in epiphyseal cavities of femurs from 9 mice

• clusters of nonproliferating chondrocytes appear in the central regions of growth plates at 3 days of age

• accelerated proliferation of flat shaped peripheral chondrocytes

• some smaller lower zone chondrocytes recover proliferative ability

kyphosis ( J:143447 )

• most mice develop thoracic kyphosis as they age

abnormal bone structure ( J:143447 )

abnormal bone marrow cavity morphology ( J:143447 )

• four cartilaginous nodules in the bone marrow cavity of tibias and femora of four mice

• cartilaginous nodules found in close proximity to the metaphyseal growth plates of knee joints

• non hypertrophic cartilagenous clusters penetrating the bone marrow cavity become hypertrophic

increased bone mineral density ( J:143447 )

abnormal cartilage morphology ( J:143447 )

• cartilaginous nodules limited at the periphery by lamellae of well mineralized trabecular bone

• nodules disappear after fusion of growth plates at 6 months

abnormal chondrocyte morphology ( J:143447 )

• neoplastic cores are hypocellular with enlarged balloon-like chondrocytes

• chondrocytes within neoplastic cores are surrounded by fewer collagen fibers

• have a distended and fragmented endoplastic reticulum

ectopic cartilage ( J:143447 )

• cartilaginous nodules in bone marrow cavity

• cartilaginous nodules in epiphyseal cavities

• non hypertrophic cartilagenous clusters penetrating the bone marrow cavity become hypertrophic and gradually form pseudogrowth plates

abnormal epiphyseal plate morphology ( J:143447 )

• growth plates are essentially normal embryonically

abnormal long bone hypertrophic chondrocyte zone ( J:143447 )

• neoplastic clusters penetrate through the hypertrophic zone into the bone marrow cavity

neoplasm

abnormal tumor susceptibility ( J:143447 )

• clusters of "resting" chondrocytes develop into neoplastic cores by day 5

• clusters become more distinct by day 7 and migrate toward epiphyses

behavior/neurological

hindlimb paralysis ( J:143447 )

• progressive hind limb paralysis results in death by 18 months

Genotype
MGI:6415627

cn2

• Allelic Composition: Fgfr2^tm3Cxd/Fgfr2⁺; Tg(Col2a1-cre)1Xya/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

craniofacial

abnormal cranium morphology ( J:286452 )

• 8-week old skulls show less malformation than 4-week old skulls

• the distance of the paired anterior zygoma is increased by 11.2% and 5.4% in 4- and 8-week old mice, respectively

• the distance between two lacrimal bones is increased by 9.4% in 4-week old mice and shows no changes in 8-week old mice

• the linear distances between the intersection of interparietal and occipital bones at the midline and the posterior palate are decreased 6.4% and 6.6% in 4- and 8-week old mice, respectively

wide metopic suture ( J:286452 )

wide sagittal suture ( J:286452 )

abnormal basicranium morphology ( J:286452 )

• mice show growth disturbance in the cranial base by P14

premature presphenoid synchondrosis closure ( J:286452 )

abnormal sphenooccipital synchondrosis ( J:286452 )

• P3 mice show shortened sphenooccipital synchondroses

premature sphenooccipital synchondrosis closure ( J:286452 )

abnormal cranial cavity morphology ( J:286452 )

• 4-week old mice show rostrocaudally shortened, but dorsoventrally increased cranial cavity, indicating a dorsoventrally increased and rostrocaudally shortened brain

decreased cranium length ( J:286452 )

• shortened skull length at 4 weeks of age

• approximately 58% linear distances in the cranium are shortened by over 5%, 33% distances exhibit less than 5% shortening, and 9% distances show over 5% increases in 4-week old mice

abnormal neurocranium morphology ( J:286452 )

• the length of the lateral neurocranium is decreased 10.2% and the width of the caudal neurocranium is increased by 5.5% in 4-week old mice

• the neurocranium is not reduced along the rostro-caudal axis and has no change along the medial-lateral axis in 8-week old mice

abnormal basioccipital bone morphology ( J:286452 )

• shortened basioccipital bone

abnormal basisphenoid bone morphology ( J:286452 )

• shortened basisphenoid bone

abnormal frontal bone morphology ( J:286452 )

• the breadth of the frontal bone is mildly increased by 5.4% in 4-week old mice

• the breadth of frontal bone shows no changes in 8-week old mice

short frontal bone ( J:286452 )

• the length of the frontal bone is mildly decreased by 5.9% in 4-week old mice

short zygomatic arch ( J:286452 )

shallow orbits ( J:286452 )

abnormal maxillary frontal process morphology ( J:286452 )

• frontal processes of the maxilla are shortened by 13.9% in 4-week old mice

• frontal processes of the maxilla are shortened by 9.2% in 8-week old mice

• the parietal frontal process of the maxilla is decreased by 7.2% in 8-week old mice

short premaxilla ( J:286452 )

• the premaxilla length is decreased by 9.3% in 4-week old mice

• the premaxilla length is reduced 11.2% in 8-week old mice

short maxilla ( J:286452 )

• maxilla length is decreased by 7.5% in 4-week old mice

• maxilla length is decreased by 8.7% in 8-week old mice

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

short zygomatic bone ( J:286452 )

• the zygomatic bone is shortened by 21.2% in 4-week old mice

• zygomatic bone is shortened by 9.3% in 8-week old mice

abnormal midface morphology ( J:286452 )

• 8-week old mice show a less severe midfacial shape than 4-week old mice

growth/size/body

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

abnormal midface morphology ( J:286452 )

• 8-week old mice show a less severe midfacial shape than 4-week old mice

skeleton

abnormal cranium morphology ( J:286452 )

• 8-week old skulls show less malformation than 4-week old skulls

• the distance of the paired anterior zygoma is increased by 11.2% and 5.4% in 4- and 8-week old mice, respectively

• the distance between two lacrimal bones is increased by 9.4% in 4-week old mice and shows no changes in 8-week old mice

• the linear distances between the intersection of interparietal and occipital bones at the midline and the posterior palate are decreased 6.4% and 6.6% in 4- and 8-week old mice, respectively

wide metopic suture ( J:286452 )

wide sagittal suture ( J:286452 )

abnormal basicranium morphology ( J:286452 )

• mice show growth disturbance in the cranial base by P14

premature presphenoid synchondrosis closure ( J:286452 )

abnormal sphenooccipital synchondrosis ( J:286452 )

• P3 mice show shortened sphenooccipital synchondroses

premature sphenooccipital synchondrosis closure ( J:286452 )

abnormal cranial cavity morphology ( J:286452 )

• 4-week old mice show rostrocaudally shortened, but dorsoventrally increased cranial cavity, indicating a dorsoventrally increased and rostrocaudally shortened brain

decreased cranium length ( J:286452 )

• shortened skull length at 4 weeks of age

• approximately 58% linear distances in the cranium are shortened by over 5%, 33% distances exhibit less than 5% shortening, and 9% distances show over 5% increases in 4-week old mice

abnormal neurocranium morphology ( J:286452 )

• the length of the lateral neurocranium is decreased 10.2% and the width of the caudal neurocranium is increased by 5.5% in 4-week old mice

• the neurocranium is not reduced along the rostro-caudal axis and has no change along the medial-lateral axis in 8-week old mice

abnormal basioccipital bone morphology ( J:286452 )

• shortened basioccipital bone

abnormal basisphenoid bone morphology ( J:286452 )

• shortened basisphenoid bone

abnormal frontal bone morphology ( J:286452 )

• the breadth of the frontal bone is mildly increased by 5.4% in 4-week old mice

• the breadth of frontal bone shows no changes in 8-week old mice

short frontal bone ( J:286452 )

• the length of the frontal bone is mildly decreased by 5.9% in 4-week old mice

short zygomatic arch ( J:286452 )

shallow orbits ( J:286452 )

abnormal maxillary frontal process morphology ( J:286452 )

• frontal processes of the maxilla are shortened by 13.9% in 4-week old mice

• frontal processes of the maxilla are shortened by 9.2% in 8-week old mice

• the parietal frontal process of the maxilla is decreased by 7.2% in 8-week old mice

short premaxilla ( J:286452 )

• the premaxilla length is decreased by 9.3% in 4-week old mice

• the premaxilla length is reduced 11.2% in 8-week old mice

short maxilla ( J:286452 )

• maxilla length is decreased by 7.5% in 4-week old mice

• maxilla length is decreased by 8.7% in 8-week old mice

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

short zygomatic bone ( J:286452 )

• the zygomatic bone is shortened by 21.2% in 4-week old mice

• zygomatic bone is shortened by 9.3% in 8-week old mice

decreased bone volume ( J:286452 )

• bone volume is decreased in calvarial bone due to the rostrocaudally shortened skull, but not change in bone volume ratio is seen

premature coronal suture closure ( J:286452 )

• premature closure of coronal sutures in P3 mice

vision/eye

shallow orbits ( J:286452 )

ocular hypertelorism ( J:286452 )

respiratory system

abnormal nasal bone morphology ( J:286452 )

• abnormal nasal bone at 8 weeks of age

short nasal bone ( J:286452 )

• the length of the nasal bone is decreased 13.6% in 4-week old mice

• the length of the nasal bone is decreased 12.5% in 8-week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acrocephalosyndactylia		DOID:12960	OMIM:101200	J:286452

Genotype
MGI:7578779

cn3

• Allelic Composition: Myl3^{tm1a(EUCOMM)Hmgu}/Myl3^{tm1a(EUCOMM)Hmgu}; Tg(Col2a1-cre)1Xya/0
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: HEPD0622_5_G02

immune system

osteoarthritis ( J:343166 )

• 6-month-old mice exhibit cartilage destruction which becomes severe at 18 months of age indicating spontaneous age-related osteoarthritis

• cartilage destruction is accompanied by aggravated synovial inflammation but comparable osteophyte maturity as in controls

• expression of senescence, DNA damage, and catabolic markers are decreased in cartilage of aged mice

• however, mice exhibit normal skeletal development, with normal organization of growth plates and normal body weight

skeleton

osteoarthritis ( J:343166 )

• 6-month-old mice exhibit cartilage destruction which becomes severe at 18 months of age indicating spontaneous age-related osteoarthritis

• cartilage destruction is accompanied by aggravated synovial inflammation but comparable osteophyte maturity as in controls

• expression of senescence, DNA damage, and catabolic markers are decreased in cartilage of aged mice

• however, mice exhibit normal skeletal development, with normal organization of growth plates and normal body weight

abnormal chondrocyte physiology ( J:343166 )

• marker analysis indicates enhanced cellular senescence of chondrocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteoarthritis		DOID:8398		J:343166