Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rflnatm1Tfur targeted mutation 1, Takahisa Furukawa MGI:5618543 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygotes exhibit normal survival and appear indistinguishable from wild-type controls, with no detectable differences in body weight and body length, tibia length or lumbar disk morphology at 12 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P0, double homozygotes exhibit slightly stunted growth relative to wild-type controls
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• at P28, double homozygotes are smaller than wild-type mice
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• at P28, the body weight of double homozygotes is significantly smaller than that of wild-type of controls
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• at P28, the body height of double homozygotes is significantly smaller than that of wild-type of controls
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• at 4 and 8 weeks of age, the crown-rump length is significantly shorter than that of wild-type mice
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• at P28, TUNEL+ cells are significantly increased in the NP and AF, and moderately increased in the vertebral body growth plate, indicating increased chondrocyte apoptosis
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• in culture, primary rib chondrocytes isolated from P24 double homozygotes exhibit a significantly decreased proliferation rate relative to wild-type chondrocytes
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• at 8 weeks of age, femoral width is significantly shorter than that of wild-type mice
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• at 8 weeks of age, femoral length is significantly shorter than that of wild-type mice
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• at 4 weeks of age, tibial length is significantly shorter than that of wild-type mice
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• at 4 weeks of age, the thickness of the proliferating zone is reduced in proximal tibiae
• the number of proliferating chondrocytes is significantly reduced
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• at 4 weeks of age, the thickness of the hypertrophic zone is reduced in proximal tibiae
• the number of hypertrophic chondrocytes is significantly reduced
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• at 4 weeks of age, proximal tibiae show a 20-30% reduction in growth plate thickness
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• at 8 weeks of age, double homozygotes show severe vertebral column abnormalities, including vertebral fusions, scoliosis and kyphosis
• the vertebral column appears as one unified block
• in contrast, the brain, heart, and kidneys appear normal at 4 weeks
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• at 8 weeks of age, the spaces for IVD are absent in both ventral and lateral views
• intervertebral foramina are also absent
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• at P28, TUNEL+ cells are significantly increased in the nucleus pulposus (NP) and annulus fibrosus (AF), indicating that increased apoptosis leads to defective IVD development
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• at 3 weeks of age, nucleus pulposus (NP) cells are remarkably decreased
• both NP and annulus fibrosus (AF) cells of IVDs are diminished at 12 weeks
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• at P14, the IVDs have almost disappeared
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• at P14, IVDs often display notable shrinkage in the thoracic region
• IVDs show notable shrinkage throughout the lumbar region
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• at P14, the average of lumbar IVD height (L1-L4) is significantly shorter than that of wild-type mice
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• at 8 weeks of age, some of the spinous processes are absent in the lumbar region
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• at P14, some of the transverse processes are absent or fused in the thoracic region
• transverse processes are hypoplastic in the lumbar region
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• at P14, some of the transverse processes are absent or fused in the thoracic region
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• at P4, double homozygotes exhibit vertebral body osteopenia, with shortening of the distance between vertebral bodies
• vertebral bodies show advanced mineralization at P14
• vertebral bodies show a moth-eaten appearance at P21 and appear misshapen at 12 weeks
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• at P28, TUNEL+ cells are moderately increased in the vertebral body growth plate, indicating that increased apoptosis leads to defective growth plate development
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• at P4, double homozygotes exhibit small size vertebra
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• at P28, vertebral fusions are are present throughout the vertebral column
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• chondrocyte maturation is accelerated, leading to precocious sternum ossification
• in culture, primary rib chondrocytes from double homozygotes display fewer actin filament bundles, a decrease of the cell surface area, and shortening of the nuclear long axis relative to wild-type chondrocytes
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• mutant sterna are prematurely ossified at P14
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• double homozygotes exhibit decreased bone formation
• although bone volume/tissue volume is unaltered, the trabecular number is significantly decreased, whereas trabecular separation is significantly increased relative to that in wild-type mice
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• at 8 weeks of age, femoral width is significantly shorter than that of wild-type mice
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• at 8 weeks of age, femoral length is significantly shorter than that of wild-type mice
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• at 4 weeks of age, tibial length is significantly shorter than that of wild-type mice
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| N |
• in culture, primary fibroblasts isolated from E14.5 double mutant embryos show normal cellular migration with no changes in Flna and actin filament morphology relative to wild-type fibroblasts
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• at P28, TUNEL+ cells are significantly increased in the NP and AF, and moderately increased in the vertebral body growth plate, indicating increased chondrocyte apoptosis
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• in culture, primary rib chondrocytes isolated from P24 double homozygotes exhibit a significantly decreased proliferation rate relative to wild-type chondrocytes
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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 12/10/2024 MGI 6.24 |
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