Mouse Genome Informatics
hm1
    Ctsktm1Ypl/Ctsktm1Ypl
129S4/SvJae-Ctsktm1Ypl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• 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
• thin calvariae bones
• calvariae exhibit normal lacunae but have high numbers of osteoclasts
• show separated cranial sutures with open fontanelles
• exhibit reduced jawbone trabeculation
• exhibit a deficiency in inter-radicular and alveolar bone heights
• 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
• thin calvariae bones
• calvariae exhibit normal lacunae but have high numbers of osteoclasts
• show separated cranial sutures with open fontanelles
• exhibit reduced jawbone trabeculation
• exhibit a deficiency in inter-radicular and alveolar bone heights
• show lack of normal occlusion and an enhanced open bite
• with respect to tooth development, mutants show altered bone density, reduced jawbone trabeculation, 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

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


Mouse Genome Informatics
hm2
    Ctsktm1Ypl/Ctsktm1Ypl
B6.129S4-Ctsktm1Ypl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
N
• 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
• Background Sensitivity: display about a 2-fold increase in osteoclast numbers, a much lower increase than seen on a 129S4 background
• Background Sensitivity: exhibit only mild osteopetrosis on the C57BL/6J background unlike on a 129S4 background

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

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