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Phenotypes Associated with This Genotype
Genotype
MGI:2450846
Allelic
Composition
Tyrobptm1Ttk/Tyrobptm1Ttk
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tyrobptm1Ttk mutation (0 available); any Tyrobp mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Osteopetrosis in Tyrobptm1Ttk/Tyrobptm1Ttk mice

skeleton
• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice (J:81823)
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls (J:81823)
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix (J:81823)
• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice (J:81823)
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls (J:81823)
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix (J:81823)
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits (J:81823)
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits (J:81823)
• slight increase is seen at 12 weeks of age, most notably in the tail bones and the metaphyseal regions of the femurs (J:81823)
• slight increase is seen at 12 weeks of age, most notably in the tail bones and the metaphyseal regions of the femurs (J:81823)
• micro-CT scans show an increase in trabecular bone mass in the tibia at 40 weeks of age (J:81823)
• at 6 weeks of age, a significant increase in trabecular bone mass is seen compared to controls, but this difference is not seen at 3 weeks of age (J:81823)
• micro-CT scans show an increase in trabecular bone mass in the tibia at 40 weeks of age (J:81823)
• at 6 weeks of age, a significant increase in trabecular bone mass is seen compared to controls, but this difference is not seen at 3 weeks of age (J:81823)
• the increase in trabecular bone amount is progressive with age (J:81823)
• the increase in trabecular bone amount is progressive with age (J:81823)

nervous system
• ectopic immature oligodendrocytes are found in the fimbria and internal capsule, adjacent to the thalamus at 1.5 and 3 months of age (J:81823)
• ectopic immature oligodendrocytes are found in the fimbria and internal capsule, adjacent to the thalamus at 1.5 and 3 months of age (J:81823)
• in the medial thalamus of 6 month old mice, degenerated synapses and accumulated synaptic vesicles are seen (J:81823)
• in the medial thalamus of 6 month old mice, degenerated synapses and accumulated synaptic vesicles are seen (J:81823)
• the cross-sectional shapes of unmyelinated axons are slightly distorted compared with those of myelinated axons (J:81823)
• the cross-sectional shapes of unmyelinated axons are slightly distorted compared with those of myelinated axons (J:81823)
• reduced expression of myelin basic protein in the thalamus at 1.5 and 3 months of age; this reduction is more severe in the frontal thalamus than in the posterior region (J:81823)
• in 6 month old mice, the number of myelinated axons in the medial thalamus is reduced, and many axons are unmyelinated (J:81823)
• reduced expression of myelin basic protein in the thalamus at 1.5 and 3 months of age; this reduction is more severe in the frontal thalamus than in the posterior region (J:81823)
• in 6 month old mice, the number of myelinated axons in the medial thalamus is reduced, and many axons are unmyelinated (J:81823)
• mice exhibit an impairment in the developmental changes of the decay time constant in GABAergic mIPSCs (J:81823)
• mice exhibit an impairment in the developmental changes of the decay time constant in GABAergic mIPSCs (J:81823)
• significantly reduced prepulse inhibition is seen in homozygous mice (J:81823)
• significantly reduced prepulse inhibition is seen in homozygous mice (J:81823)

behavior/neurological
N
• at 3.5 months of age, analysis of motor function, nociceptive responses, and learning, including an electric shock test, a hot plate test, and a Morris water maze task indicated no differences compared to controls (J:81823)
• at 3.5 months of age, analysis of motor function, nociceptive responses, and learning, including an electric shock test, a hot plate test, and a Morris water maze task indicated no differences compared to controls (J:81823)
• mice show reduced response to acoustic stimuli (J:81823)
• mice show reduced response to acoustic stimuli (J:81823)

hematopoietic system
• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice (J:81823)
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls (J:81823)
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix (J:81823)
• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice (J:81823)
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls (J:81823)
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix (J:81823)
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits (J:81823)
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits (J:81823)

immune system
• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice (J:81823)
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls (J:81823)
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix (J:81823)
• osteoclasts apperar smaller than controls, but comparable numbers of multinucleated TRAP+ osteoclasts per unit trabecular area are seen in femurs of 6-week-old mutant and control mice (J:81823)
• however, in vitro studies show that the induction of multinucleated, TRAP+ osteoclasts was significantly hampered compared to controls (J:81823)
• in vitro, mutant osteoclasts were devoid of an actin ring, which is characteristic of mature and functional osteoclasts and is necessary for tight adhesion of osteoclasts to bone matrix (J:81823)
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits (J:81823)
• in vitro, mutant osteoclasts had a significantly reduced ability to form resorptive pits on the dentin surface, while control osteoclasts made many pits (J:81823)
• cultured dendritic cells show reduced responses to Sema6D stimulation (J:110786)
• cultured dendritic cells show reduced responses to Sema6D stimulation (J:110786)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory