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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pfn1tm1Ref
targeted mutation 1, Reinhard Fassler
MGI:3843221
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Pfn1tm1Ref/Pfn1tm1Ref
Tg(Col2a1-cre)1Asz/0
involves: 129T2/SvEms * C57BL/6 * CBA MGI:3843222


Genotype
MGI:3843222
cn1
Allelic
Composition
Pfn1tm1Ref/Pfn1tm1Ref
Tg(Col2a1-cre)1Asz/0
Genetic
Background
involves: 129T2/SvEms * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pfn1tm1Ref mutation (0 available); any Pfn1 mutation (12 available)
Tg(Col2a1-cre)1Asz mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 25% of mice die within 10 days of birth while the remaining 75% have a normal lifespan
• about 25% of mice die within 10 days of birth

skeleton
• moderate decrease in the length of long bones in newborns
• decrease in length becomes more severe with age
• severe kyphoscoliosis develops in mice that die by P10
• reduction in growth of the long bones
• growth of the skull is abnormal
• proliferating chondrocytes have a more rounded morphology and the columnar structure is disorganized in newborns
• these abnormalities become more pronounced with age
• at 4 weeks of age the height of the proliferative zone is reduced to a few cells and significantly fewer cells are proliferating
• in newborns the percentage of binucleated cells is increased and this percentage continues to increase with age
• at 4 weeks of age many cells are unusually enlarged and appear binucleated
• increased height in newborns
• isolated chondrocytes remain rounded, failing to form and extend lamellipodia
• isolated chondrocytes appear to have a defect in cytokinesis and show a marked delay in daughter cell separation

growth/size/body
• mice that die by P10 are smaller
• progressive development of dwarfism in surviving mice

behavior/neurological
• mice that die by P10 are weaker

limbs/digits/tail





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory