Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Papss2bm mutation
(2 available);
any
Papss2 mutation
(33 available)
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homeostasis/metabolism
skeleton
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• Background Sensitivity: proliferative zone of the upper tibia at 16 and 25 days of age is reduced in height and has irregular cell columns with some areas distinctly disorganized and others fairly normal
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• the pattern of hypertrophic cells in the hypertrophic zone of tibiae from 16 and 25 day old homozygotes is severely disturbed with most of the cells polygonal and irregularly shaped and often containing pyknotic nuclei, and the lacunar matrix being dense and ill-defined
• electron micrographs of the hypertrophic zones at 16 days of age shows matrix vesicles and fibrous structures in the lacuna that are not present in controls
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• assessment at 5 days of age reveals undersulfated glycosaminoglycans in the epiphyses of the distal femoral head and proximal tibial head
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• many of the chondrocytes from upper tibia of 16 and 25 day old homozygotes are irregular in shape with pycnotic nuclei and this is more pronounced in the distal portion of the proliferative zone
• electron micrographs of hypertrophic and proliferative chondrocytes show morphological abnormalities including distention of the endoplasmic reticular cisternae
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• the pattern of mineralization in tibial proximal epiphyseal plate is irregular and patchy, cells of the mineralization zone have pyknotic nuclei and lack the normal cytoplasic vacuolization, and, distinct from controls, type V collagen is found in this cartilage and the fine fibrils of the lacunar matrix lack the typical collagen periodicity
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Allelic Composition |
Papss2bm/Papss2bm
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Genetic Background |
involves: C57BL/6J * LDJ/Le |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Papss2bm mutation
(2 available);
any
Papss2 mutation
(33 available)
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growth/size/body
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• homozygotes have a disproportionately short stature with shortened long bones and shortened tails
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craniofacial
skeleton
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• severe degenerative knee joint disease is found at 12 months of age in both males and females
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• at 5 days of age there is a reduction in size in each zone of tibial and femoral epiphyseal cartilage growth, wih the tibial cartilaginous epiphyseal plate from synovial space to metaphysis only 81% of normal size, and by 16 days of age the epiphyseal plate is only 44 to 67% of normal size with both the columnar and hypertrophic zones markedly reduced in size, notably the hypertrophic region is often only 3 to 4 cells in height at 16 days of age
• the growth plate is abnormally straight
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• analysis of glycosaminoglycans from mesenchymal cultures of embryonic day 11 limb buds reveals significant undersulphation of chondroitin sulfate
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immune system
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• severe degenerative knee joint disease is found at 12 months of age in both males and females
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Papss2bm mutation
(2 available);
any
Papss2 mutation
(33 available)
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skeleton
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• the length of femora and tibiae is shorter than normal in pre-wean homozygotes and growth is severely interupted at weaning, between 21 and 28 days of age, before resuming slow growth
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• at 3 weeks of age and more severe at 6 weeks of age many of the tibial and femural proliferating chondrocytes have pyknotic nuclei, there is a complete disarrangement of the columnar pattern, the primary spongiosa is disorderly and the primary spicules are stubby
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• at 3 weeks of age the tibial and femural growth zones are narrow and the columnar pattern is irregular due to a mild increase in intercolumnar matrix
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• endochondral ossification has failed chondrocyte hypertrophy and disorientation of the cartilage closest to the metaphysis
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• chondrocytes fail to undergo hypertrophy and to deposit glycogen
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Papss2bm mutation
(2 available);
any
Papss2 mutation
(33 available)
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Abnormal skeletal development of Papss2bm/Papss2bm (right) mice at P0, P10 and P3
mortality/aging
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• a few mutants die from malocclusion
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craniofacial
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• skull length is 89% of normal
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• in some cases leads to death
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• increased sensitivity to hydrocortisone induced development of cleft palate
• at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
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digestive/alimentary system
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• at 30 days of age the gut length was 91% of normal
• by 60 days of age, gut length was normal
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• increased sensitivity to hydrocortisone induced development of cleft palate
• at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
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growth/size/body
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• in some cases leads to death
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• increased sensitivity to hydrocortisone induced development of cleft palate
• at E14 palate development was 8 to 12 hours behind normal even without experimental intervention
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• body length is 90% of normal
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• organ weights at 30 days of age about 70-76% normal
• at 60 days of age organ weights varied between 78 and 140% of normal
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• retarded growth rate during first 4 weeks of life
• eventually attain near normal body weight
• body length about 90% normal
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limbs/digits/tail
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• tail length is about 69% of normal
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skeleton
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• skull length is 89% of normal
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• in some cases leads to death
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• proliferating cartilage cell columns are shorter
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• thinner epiphyseal plates
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• limb bones from 63 to 86% of normal length
(J:5109)
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• primary trabeculae are shorter, less numerous, and not aligned as well as in controls
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mortality/aging
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• presence of homozygous Papss2bm does not rescue neonatal lethality or skeletal abnormalities
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craniofacial
limbs/digits/tail
skeleton
growth/size/body
liver/biliary system
N |
• no hepatotoxicity
• hepatocytes appear normal
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homeostasis/metabolism