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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rflnatm1Tfur
targeted mutation 1, Takahisa Furukawa
MGI:5618543
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rflnatm1Tfur/Rflnatm1Tfur 129S6/SvEvTac-Rflnatm1Tfur MGI:5662291
cx2
Rflnatm1Tfur/Rflnatm1Tfur
Rflnbtm1Sia/Rflnbtm1Sia
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj MGI:5662293


Genotype
MGI:5662291
hm1
Allelic
Composition
Rflnatm1Tfur/Rflnatm1Tfur
Genetic
Background
129S6/SvEvTac-Rflnatm1Tfur
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rflnatm1Tfur mutation (0 available); any Rflna mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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




Genotype
MGI:5662293
cx2
Allelic
Composition
Rflnatm1Tfur/Rflnatm1Tfur
Rflnbtm1Sia/Rflnbtm1Sia
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rflnatm1Tfur mutation (0 available); any Rflna mutation (7 available)
Rflnbtm1Sia mutation (1 available); any Rflnb mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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

skeleton
• 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
• 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
• severe kyphosis at 8 weeks of age
• severe scoliosis at P28 and 8 weeks of age
• 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
• mutant sterna are prematurely ossified at P14
• 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

limbs/digits/tail
• 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

cellular
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





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory