|
Allele Symbol Allele Name Allele ID |
Rflnbtm1Sia targeted mutation 1, Shinichi Aizawa MGI:3528231 |
||||||||||||||||
| Summary |
3 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice are born in expected numbers and are fertile as adults; forebrain and midbrain exhibit normal patterning and morphology throughout development and adulthood
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at P0, double homozygotes exhibit slightly stunted growth relative to wild-type controls
|
|
• at P28, double homozygotes are smaller than wild-type mice
|
|
• at P28, the body weight of double homozygotes is significantly smaller than that of wild-type of controls
|
|
• at P28, the body height of double homozygotes is significantly smaller than that of wild-type of controls
|
|
• at 4 and 8 weeks of age, the crown-rump length is significantly shorter than that of wild-type mice
|
|
• 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
|
|
• in culture, primary rib chondrocytes isolated from P24 double homozygotes exhibit a significantly decreased proliferation rate relative to wild-type chondrocytes
|
|
• at 8 weeks of age, femoral width is significantly shorter than that of wild-type mice
|
|
• at 8 weeks of age, femoral length is significantly shorter than that of wild-type mice
|
|
• at 4 weeks of age, tibial length is significantly shorter than that of wild-type mice
|
|
• at 4 weeks of age, the thickness of the proliferating zone is reduced in proximal tibiae
• the number of proliferating chondrocytes is significantly reduced
|
|
• at 4 weeks of age, the thickness of the hypertrophic zone is reduced in proximal tibiae
• the number of hypertrophic chondrocytes is significantly reduced
|
|
• at 4 weeks of age, proximal tibiae show a 20-30% reduction in growth plate thickness
|
|
• mutant sterna are prematurely ossified at P14
|
|
• 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
|
|
• at 8 weeks of age, the spaces for IVD are absent in both ventral and lateral views
• intervertebral foramina are also absent
|
|
• 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
|
|
• 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
|
|
• at P14, the IVDs have almost disappeared
|
|
• at P14, IVDs often display notable shrinkage in the thoracic region
• IVDs show notable shrinkage throughout the lumbar region
|
|
• at P14, the average of lumbar IVD height (L1-L4) is significantly shorter than that of wild-type mice
|
|
• at 8 weeks of age, some of the spinous processes are absent in the lumbar region
|
|
• at P14, some of the transverse processes are absent or fused in the thoracic region
• transverse processes are hypoplastic in the lumbar region
|
|
• at P14, some of the transverse processes are absent or fused in the thoracic region
|
|
• 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
|
|
• at P28, TUNEL+ cells are moderately increased in the vertebral body growth plate, indicating that increased apoptosis leads to defective growth plate development
|
|
• at P4, double homozygotes exhibit small size vertebra
|
|
• at P28, vertebral fusions are are present throughout the vertebral column
|
|
• 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
|
|
• 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
|
|
• at 8 weeks of age, femoral width is significantly shorter than that of wild-type mice
|
|
• at 8 weeks of age, femoral length is significantly shorter than that of wild-type mice
|
|
• at 4 weeks of age, tibial length is significantly shorter than that of wild-type mice
|
| 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
|
|
• 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
|
|
• in culture, primary rib chondrocytes isolated from P24 double homozygotes exhibit a significantly decreased proliferation rate relative to wild-type chondrocytes
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/23/2024 MGI 6.23 |
|
|
|
||
Analysis Tools