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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col9a1tm1Jae
targeted mutation 1, Rudolf Jaenisch
MGI:2152964
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col9a1tm1Jae/Col9a1tm1Jae either: (involves: 129S2/SvPas * BALB/c) or (involves: 129S2/SvPas * C57BL) MGI:2673357
hm2
Col9a1tm1Jae/Col9a1tm1Jae involves: 129S2/SvPas MGI:3699108
cx3
Col2a1tm1Prc/Col2a1+
Col9a1tm1Jae/Col9a1tm1Jae
involves: 129/Sv * 129S2/SvPas MGI:3699109


Genotype
MGI:2673357
hm1
Allelic
Composition
Col9a1tm1Jae/Col9a1tm1Jae
Genetic
Background
either: (involves: 129S2/SvPas * BALB/c) or (involves: 129S2/SvPas * C57BL)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col9a1tm1Jae mutation (0 available); any Col9a1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Histology of knee joint articular cartilage of wild-type control and Col9a1tm1Jae/Col9a1tm1Jae mice

cellular
• at 9 months, histology of mutant femoral and tibial joint cartilage and subchondral bone revealed increased chondrocyte proliferation

skeleton
• at 9 months, histology of mutant femoral and tibial joint cartilage and subchondral bone revealed increased chondrocyte proliferation
• seven days following tooth extraction, wild-type mice exhibit well organized trabecular bone restoration in the healing site; in contrast, the extraction socket of homozygous mutant mice shows remarkable variability in alveolar bone wound healing: it often appears as a thick cortical-bone-like tissue formed directly on the bony wall that is lined by a layer of osteoblast-like cells
• in addition, the restored trabecular bones frequently exhibit unusual shapes: some sockets display minimal bone formation activity and are filled with dense fibrous tissues with large cells
• at day 14, the sockets of wild-type mice are healed with more matured trabecular bone, whereas the healing alveolar bone of mutant mice is composed of disorganized bone structure
• histology of mandibular condyles revealed that the primary spongiosa of adult mutant mice display an abnormal trabecular bone structure associated with aberrant immunostaining with the hypertrophic cartilage specific type X collagen antibody
• homozygotes are viable, fertile, and of normal size with no apparent abnormalities in the vertebral column
• at 4-8 weeks, homozygotes do not display observable growth retardation or defects in skeletal size and shape, including craniofacial bones (e.g. mandible)
• at 4 months or older, homozygotes develop a progressive degenerative joint disease resembling human osteoarthritis, with pronounced changes in the knee joints
• at 9 months of age, anatomy and histology of mutant knee joint articular cartilage revealed major morphological changes of articulating surfaces and surrounding bones in the absence of observable inflammatory or immune responses
• at 9 months, the mutant femoral condylar surfaces appear uneven and in some cases exhibit eroded areas with fibrous material
• at 9 months, the mutant tibia appears wider, and the tibial joint cartilage surfaces appear either flattened or concave
• at 9 months, the femoropatellar groove is abnormally deep and V-shaped, with loss of cartilage in the center of the groove, fibrillation and areas of increased chondrocyte proliferation
• at 9 months, the articular surface of the patella is also abnormally V-shaped and shows extensive fibrillation
• at 9 months, the mutant subchondral bone appears thinner and disorganized, and shows fibrillation and areas of increased chondrocyte proliferation
• increased cartilage and bone formation at the periphery of mutant joints with increasing age, leading to morphological changes, esp. in the knee joints
• at 9 months of age, anatomy and histology of mutant knee joint articular cartilage revealed major morphological changes of articulating surfaces and surrounding bones in the absence of observable inflammatory or immune responses
• in contrast to joint cartilage, other hyaline cartilages display no apparent histological alterations
• at 12 months, homozygotes show total loss of cartilage in certain areas of the femoral and tibial joint surfaces

limbs/digits/tail
• at 9 months of age, anatomy and histology of mutant knee joint articular cartilage revealed major morphological changes of articulating surfaces and surrounding bones in the absence of observable inflammatory or immune responses
• at 9 months, the mutant femoral condylar surfaces appear uneven and in some cases exhibit eroded areas with fibrous material
• at 9 months, the mutant tibia appears wider, and the tibial joint cartilage surfaces appear either flattened or concave
• at 9 months, the femoropatellar groove is abnormally deep and V-shaped, with loss of cartilage in the center of the groove, fibrillation and areas of increased chondrocyte proliferation
• at 9 months, the articular surface of the patella is also abnormally V-shaped and shows extensive fibrillation
• at 9 months, the mutant subchondral bone appears thinner and disorganized, and shows fibrillation and areas of increased chondrocyte proliferation

immune system
• homozygotes are viable, fertile, and of normal size with no apparent abnormalities in the vertebral column
• at 4-8 weeks, homozygotes do not display observable growth retardation or defects in skeletal size and shape, including craniofacial bones (e.g. mandible)
• at 4 months or older, homozygotes develop a progressive degenerative joint disease resembling human osteoarthritis, with pronounced changes in the knee joints

hearing/vestibular/ear
• homozygotes display a crooked tectorial membrane but a normal organ of Corti
• the striated-sheet matrix is abnormally loose and only aggregated and fused fibers without a cross-striated pattern course among the striated-sheet matrix
• antibody against type II collagen fails to detect type II collagen in mutant tectorial membrane
• however, collagen fibrils in the spiral ligament remain morphologically unchanged
• at 12 months, ABRs indicate an average increase in auditory threshold of 276.7 dB
• at 12 months, homozygotes exhibit a mild to moderate hearing impairment, as assessed by ABRs
• at 12 months, wild-type mice maintain normal hearing (35[?]0 dB) while homozygotes display hearing loss (62[?]6.7 dB)

vision/eye
N
• eye histology revealed no obvious abnormalities even in mice with severe articular cartilage alterations

homeostasis/metabolism
• seven days following tooth extraction, wild-type mice exhibit well organized trabecular bone restoration in the healing site; in contrast, the extraction socket of homozygous mutant mice shows remarkable variability in alveolar bone wound healing: it often appears as a thick cortical-bone-like tissue formed directly on the bony wall that is lined by a layer of osteoblast-like cells
• in addition, the restored trabecular bones frequently exhibit unusual shapes: some sockets display minimal bone formation activity and are filled with dense fibrous tissues with large cells
• at day 14, the sockets of wild-type mice are healed with more matured trabecular bone, whereas the healing alveolar bone of mutant mice is composed of disorganized bone structure
• histology of mandibular condyles revealed that the primary spongiosa of adult mutant mice display an abnormal trabecular bone structure associated with aberrant immunostaining with the hypertrophic cartilage specific type X collagen antibody




Genotype
MGI:3699108
hm2
Allelic
Composition
Col9a1tm1Jae/Col9a1tm1Jae
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col9a1tm1Jae mutation (0 available); any Col9a1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• develop osteoarthritis-like degenerative changes in knee joints
• 4 month old mutants exhibit early osteoarthritic changes in knee joints and by 9 months of age, show extensive degeneration of articular surfaces

skeleton
• develop osteoarthritis-like degenerative changes in knee joints
• 4 month old mutants exhibit early osteoarthritic changes in knee joints and by 9 months of age, show extensive degeneration of articular surfaces

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:117910




Genotype
MGI:3699109
cx3
Allelic
Composition
Col2a1tm1Prc/Col2a1+
Col9a1tm1Jae/Col9a1tm1Jae
Genetic
Background
involves: 129/Sv * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1Prc mutation (0 available); any Col2a1 mutation (20 available)
Col9a1tm1Jae mutation (0 available); any Col9a1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• develop osteoarthritis-like degenerative changes in knee joints to similar extent as in single Col9a1 homozygotes; show no difference in the onset of osteoarthritis between the double mutants and the single Col9a1 homozygotes

skeleton
• develop osteoarthritis-like degenerative changes in knee joints to similar extent as in single Col9a1 homozygotes; show no difference in the onset of osteoarthritis between the double mutants and the single Col9a1 homozygotes





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/30/2021
MGI 6.16
The Jackson Laboratory