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Phenotypes Associated with This Genotype
Genotype
MGI:3698527
Allelic
Composition
Ctsktm1Ypl/Ctsktm1Ypl
Genetic
Background
129S4/SvJae-Ctsktm1Ypl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsktm1Ypl mutation (0 available); any Ctsk mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• exhibit a deficiency in inter-radicular and alveolar bone heights
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite
• show lack of normal occlusion and an enhanced open bite
• Background Sensitivity: exhibit decreased body weight on the 129S4 background compared to a C57BL/6J background
• weights are about 30% less than in wild-type at 4 weeks of age
• short stature
• grow more slowly than wild-type

skeleton
• Background Sensitivity: develop pycnodysostosis on the 129S4 background but not on a C57BL/6J background
• show separated cranial sutures with open fontanelles at 6 weeks of age
• calvariae exhibit normal lacunae but have high numbers of osteoclasts
• show separated cranial sutures with open fontanelles at 6 weeks of age
• thin calvariae bones
• exhibit reduced jawbone trabeculation
• exhibit a deficiency in inter-radicular and alveolar bone heights
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite
• show lack of normal occlusion and an enhanced open bite
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts
• distal phalanges are thin and exhibit acroosteolysis
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices
• spondylolysis in the vertebrae
• bone volume/total volume is about 3-fold higher in trabecular bone
• bone volume/total volume is about 2-3 fold lower in bone other than trabecular bone
• Background Sensitivity: severe osteopetrosis on the 129S4 background
• Background Sensitivity: on the 129S4 background, develop pycnodysostosis, a disorder in which both osteolysis and osteopetrosis occurs in the same organism
• bone resorption is down-regulated in the long bones (osteopetrosis) and is up-regulated in calvariae, phalanges, and vertebrae (osteolysis)
• exhibit bone fragility

limbs/digits/tail
• distal phalanges are thin and exhibit acroosteolysis
• exhibit acroosteolysis
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices

craniofacial
• show separated cranial sutures with open fontanelles at 6 weeks of age
• calvariae exhibit normal lacunae but have high numbers of osteoclasts
• show separated cranial sutures with open fontanelles at 6 weeks of age
• thin calvariae bones
• exhibit reduced jawbone trabeculation
• exhibit a deficiency in inter-radicular and alveolar bone heights
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite
• show lack of normal occlusion and an enhanced open bite

hematopoietic system
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts

immune system
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts


Contributing Projects:
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
03/12/2024
MGI 6.23
The Jackson Laboratory