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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ctsktm1Ypl
targeted mutation 1, Yi-Ping Li
MGI:3698312
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ctsktm1Ypl/Ctsktm1Ypl 129S4/SvJae-Ctsktm1Ypl MGI:3698527
hm2
Ctsktm1Ypl/Ctsktm1Ypl B6.129S4-Ctsktm1Ypl MGI:3698526


Genotype
MGI:3698527
hm1
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 (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite (J:117870)
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite (J:117870)
• Background Sensitivity: exhibit decreased body weight on the 129S4 background compared to a C57BL/6J background (J:117870)
• weights are about 30% less than in wild-type at 4 weeks of age (J:117870)
• Background Sensitivity: exhibit decreased body weight on the 129S4 background compared to a C57BL/6J background (J:117870)
• weights are about 30% less than in wild-type at 4 weeks of age (J:117870)
• short stature (J:117870)
• short stature (J:117870)
• grow more slowly than wild-type (J:117870)
• grow more slowly than wild-type (J:117870)

skeleton
• Background Sensitivity: develop pycnodysostosis on the 129S4 background but not on a C57BL/6J background (J:117870)
• Background Sensitivity: develop pycnodysostosis on the 129S4 background but not on a C57BL/6J background (J:117870)
• show separated cranial sutures with open fontanelles (J:117870)
• show separated cranial sutures with open fontanelles (J:117870)
• thin calvariae bones (J:117870)
• calvariae exhibit normal lacunae but have high numbers of osteoclasts (J:117870)
• thin calvariae bones (J:117870)
• calvariae exhibit normal lacunae but have high numbers of osteoclasts (J:117870)
• show separated cranial sutures with open fontanelles (J:117870)
• show separated cranial sutures with open fontanelles (J:117870)
• exhibit reduced jawbone trabeculation (J:117870)
• exhibit reduced jawbone trabeculation (J:117870)
• exhibit a deficiency in inter-radicular and alveolar bone heights (J:117870)
• exhibit a deficiency in inter-radicular and alveolar bone heights (J:117870)
• show lack of normal occlusion and an enhanced open bite (J:117870)
• show lack of normal occlusion and an enhanced open bite (J:117870)
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow (J:117870)
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts (J:117870)
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow (J:117870)
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts (J:117870)
• distal phalanges are thin and exhibit acroosteolysis (J:117870)
• distal phalanges are thin and exhibit acroosteolysis (J:117870)
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity (J:117870)
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices (J:117870)
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity (J:117870)
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices (J:117870)
• spondylolysis in the vertebrae (J:117870)
• spondylolysis in the vertebrae (J:117870)
• bone volume/total volume is about 3-fold higher in trabecular bone (J:117870)
• bone volume/total volume is about 3-fold higher in trabecular bone (J:117870)
• bone volume/total volume is about 2-3 fold lower in bone other than trabecular bone (J:117870)
• bone volume/total volume is about 2-3 fold lower in bone other than trabecular bone (J:117870)
• Background Sensitivity: severe osteopetrosis on the 129S4 background (J:117870)
• Background Sensitivity: severe osteopetrosis on the 129S4 background (J:117870)
• Background Sensitivity: on the 129S4 background, develop pycnodysostosis, a disorder in which both osteolysis and osteopetrosis occurs in the same organism (J:117870)
• Background Sensitivity: on the 129S4 background, develop pycnodysostosis, a disorder in which both osteolysis and osteopetrosis occurs in the same organism (J:117870)
• bone resorption is down-regulated in the long bones (osteopetrosis) and is up-regulated in calvariae, phalanges, and vertebrae (osteolysis) (J:117870)
• bone resorption is down-regulated in the long bones (osteopetrosis) and is up-regulated in calvariae, phalanges, and vertebrae (osteolysis) (J:117870)
• exhibit bone fragility (J:117870)
• exhibit bone fragility (J:117870)

limbs/digits/tail
• distal phalanges are thin and exhibit acroosteolysis (J:117870)
• distal phalanges are thin and exhibit acroosteolysis (J:117870)
• exhibit acroosteolysis (J:117870)
• exhibit acroosteolysis (J:117870)
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity (J:117870)
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices (J:117870)
• tibiae are increased in thickness, show increased bone radiodensity and lack a normal marrow cavity (J:117870)
• tibiae show increased numbers of osteoclasts, particularly in the bone marrow, absence of Howship's lacunae and undegrated matrices (J:117870)

craniofacial
• show separated cranial sutures with open fontanelles (J:117870)
• show separated cranial sutures with open fontanelles (J:117870)
• thin calvariae bones (J:117870)
• calvariae exhibit normal lacunae but have high numbers of osteoclasts (J:117870)
• thin calvariae bones (J:117870)
• calvariae exhibit normal lacunae but have high numbers of osteoclasts (J:117870)
• show separated cranial sutures with open fontanelles (J:117870)
• show separated cranial sutures with open fontanelles (J:117870)
• exhibit reduced jawbone trabeculation (J:117870)
• exhibit reduced jawbone trabeculation (J:117870)
• exhibit a deficiency in inter-radicular and alveolar bone heights (J:117870)
• exhibit a deficiency in inter-radicular and alveolar bone heights (J:117870)
• show lack of normal occlusion and an enhanced open bite (J:117870)
• show lack of normal occlusion and an enhanced open bite (J:117870)
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite (J:117870)
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, lack of normal occlusion, and an enhanced open bite (J:117870)

hematopoietic system
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow (J:117870)
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts (J:117870)
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow (J:117870)
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts (J:117870)

immune system
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow (J:117870)
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts (J:117870)
• the number of osteoclasts in tibiae is about 15 times higher than in wild-type, particularly within the bone marrow (J:117870)
• osteoclasts lack normal apoptosis and senescence and exhibit over-growth both in vitro and in vivo, resulting in a high number of osteoclasts (J:117870)

Mouse Models of Human Disease
OMIM ID Ref(s)
Pycnodysostosis 265800 J:117870




Genotype
MGI:3698526
hm2
Allelic
Composition
Ctsktm1Ypl/Ctsktm1Ypl
Genetic
Background
B6.129S4-Ctsktm1Ypl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsktm1Ypl mutation (0 available); any Ctsk mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
N
• Background Sensitivity: on a C57BL/6J background, mutants do not exhibit a lower weight as is seen on a 129S4 background (J:117870)
• Background Sensitivity: on a C57BL/6J background, mutants do not exhibit a lower weight as is seen on a 129S4 background (J:117870)

skeleton
• Background Sensitivity: on the C57BL/6J background, exhibit fewer of the traits associated with pycnodysostosis than on a 129S4 background, and do not show acroosteolysis or spondylolysis of the distal phalanges (J:117870)
• Background Sensitivity: on the C57BL/6J background, exhibit fewer of the traits associated with pycnodysostosis than on a 129S4 background, and do not show acroosteolysis or spondylolysis of the distal phalanges (J:117870)
• Background Sensitivity: display about a 2-fold increase in osteoclast numbers, a much lower increase than seen on a 129S4 background (J:117870)
• Background Sensitivity: display about a 2-fold increase in osteoclast numbers, a much lower increase than seen on a 129S4 background (J:117870)
• Background Sensitivity: exhibit only mild osteopetrosis on the C57BL/6J background unlike on a 129S4 background (J:117870)
• Background Sensitivity: exhibit only mild osteopetrosis on the C57BL/6J background unlike on a 129S4 background (J:117870)

hematopoietic system
• Background Sensitivity: display about a 2-fold increase in osteoclast numbers, a much lower increase than seen on a 129S4 background (J:117870)
• Background Sensitivity: display about a 2-fold increase in osteoclast numbers, a much lower increase than seen on a 129S4 background (J:117870)

immune system
• Background Sensitivity: display about a 2-fold increase in osteoclast numbers, a much lower increase than seen on a 129S4 background (J:117870)
• Background Sensitivity: display about a 2-fold increase in osteoclast numbers, a much lower increase than seen on a 129S4 background (J:117870)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory