Phenotypes associated with this allele
Allelic Composition |
Col1a1tm1Jae/Col1a1tm1Jae
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Genetic Background |
either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6) |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm1Jae mutation
(1 available);
any
Col1a1 mutation
(160 available)
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reproductive system
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• homozygous females developed postpartum abnormalities of the uterus, including persistence of nodules containing type I collagen in the uterine wall, caused by a failure of collagen resorption
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• occasionally, virgin homozygous females showed small accumulations of collagen in the myometrium of the uterus
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• mutant females had slightly reduced litter sizes and significantly fewer litters than wild-type females
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integument
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• homozygotes developed patchy hair loss
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• homozygotes were viable, resistant to collagenase action, and developed normally to young adulthood
• at ~7 months, homozygotes developed dermal fibrosis, similar to scleroderma, and skin ulcerations
• mutant skin displayed a significant increase in collagen extending through to the deep dermis
• homozygous females developed similar but milder skin abnormalities relative to age-matched homozygous males
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm1Jae mutation
(1 available);
any
Col1a1 mutation
(160 available)
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craniofacial
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• at >4 weeks of age, mutants showed increased bone deposition in calvariae mainly at the inner periosteal surface adjacent to the dura mater
• calvarial thickness nearly doubled by ~10 months of age
• homozygotes had normal circulating levels of PTH, but showed increased calcein labeling of calvarial surfaces
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• calvarial thickness nearly doubled by ~10 months of age
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growth/size/body
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• homozygotes showed a normal mean body weight throughout the 36-wk observation period, except for a 9.8% reduction at 18 wks
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limbs/digits/tail
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• adult homozygotes showed bony deformities, particularly of long bones, with increased deposition of woven bone
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skeleton
N |
• homozygotes showed normal tooth eruption
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• beginning at about 2 weeks of age, homozygotes showed increased osteoblast apoptosis, despite increased bone deposition
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• beginning at about 2 weeks of age, homozygotes showed increased osteocyte apoptosis, despite increased bone deposition
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• at 4 weeks, homozygotes showed an increase in tibial trabecular bone volume despite an overall decrease in osteoblast activity in trabecular bone
(J:85591)
• in contrast, homozygotes displayed normal tibial cortical bone thickness, and a relatively normal tibial periosteal mineral apposition rate
(J:85591)
• at greater 4 weeks of age, mutants began to show increased bone deposition of endosteal trabecular bone in tibial/femoral bones
(J:90884)
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• at >4 weeks of age, mutants showed increased bone deposition in calvariae mainly at the inner periosteal surface adjacent to the dura mater
• calvarial thickness nearly doubled by ~10 months of age
• homozygotes had normal circulating levels of PTH, but showed increased calcein labeling of calvarial surfaces
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• calvarial thickness nearly doubled by ~10 months of age
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• in contrast to wild-type, homozygotes showed resistance to PTH-induced bone resorption, with only a few resorption spaces and rare osteoclasts
• the bone resorption area and the number of osteoclasts/mm2 were significantly increased (~5-fold) after PTH injection in wild-type, but not in homozygous mutant mice
• homozygotes were not resistant to other skeletal effects of PTH
• after i.p. injection of PTH, calcemic responses were significantly lower in homozygotes versus wild-type
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• adult homozygotes showed bony deformities, particularly of long bones, with increased deposition of woven bone
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• at >2 weeks of age, homozygotes showed loss of osteocytes from their lacunae in the calvariae and in the shafts of long bones
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• the number of "empty" lacunae increased with age
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• homozygotes exhibited a mild osteopetrotic phenotype, that is, a mild, but significant, increase in tibial trabecular number and volume, and a sharp decrease in trabecular separation
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• homozygotes showed impaired osteoclastic bone resorption in trabecular bone: namely, an increase in osteoclast number and surface in long bones
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• adult homozygotes developed joint contractures
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vision/eye
N |
• homozygotes showed no anterior segment defects: the angle was open, and the depth of the anterior chamber appeared normal
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• homozygotes showed a significant increase in mean intraocular pressure at 18, 24, and 36 weeks (21%, 44%, and 36%, respectively)
• homozygotes displayed an increased accumulation of collagen I in conjunctiva, subconjunctival tissue, and sclera, suggesting an association between IOP regulation and fibrillar collagen turnover
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immune system
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• in contrast to wild-type, homozygotes showed resistance to PTH-induced bone resorption, with only a few resorption spaces and rare osteoclasts
• the bone resorption area and the number of osteoclasts/mm2 were significantly increased (~5-fold) after PTH injection in wild-type, but not in homozygous mutant mice
• homozygotes were not resistant to other skeletal effects of PTH
• after i.p. injection of PTH, calcemic responses were significantly lower in homozygotes versus wild-type
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cellular
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• beginning at about 2 weeks of age, homozygotes showed increased osteoblast apoptosis, despite increased bone deposition
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• beginning at about 2 weeks of age, homozygotes showed increased osteocyte apoptosis, despite increased bone deposition
|
|
• at 4 weeks, homozygotes showed an increase in tibial trabecular bone volume despite an overall decrease in osteoblast activity in trabecular bone
(J:85591)
• in contrast, homozygotes displayed normal tibial cortical bone thickness, and a relatively normal tibial periosteal mineral apposition rate
(J:85591)
• at greater 4 weeks of age, mutants began to show increased bone deposition of endosteal trabecular bone in tibial/femoral bones
(J:90884)
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hematopoietic system
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• in contrast to wild-type, homozygotes showed resistance to PTH-induced bone resorption, with only a few resorption spaces and rare osteoclasts
• the bone resorption area and the number of osteoclasts/mm2 were significantly increased (~5-fold) after PTH injection in wild-type, but not in homozygous mutant mice
• homozygotes were not resistant to other skeletal effects of PTH
• after i.p. injection of PTH, calcemic responses were significantly lower in homozygotes versus wild-type
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Allelic Composition |
Col1a1tm1Jae/Col1a1+
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Genetic Background |
either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6) |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm1Jae mutation
(1 available);
any
Col1a1 mutation
(160 available)
|
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reproductive system
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• collagen accumulation in the uteri of heterozygous mutants was less pronounced relative to homozygous mutants
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• heterozygous females had slightly reduced litter sizes and significantly fewer litters than wild-type females
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integument
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• heterozygotes developed patchy hair loss
|
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• at ~7 months, heterozygotes developed dermal fibrosis, similar to scleroderma, and skin ulcerations
• mutant skin displayed a significant increase in collagen extending through to the deep dermis
• heterozygous males and females developed similar but milder skin abnormalities relative to age-matched homozygous males
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