Phenotypes associated with this allele

• Allele Symbol: Ctsk^tm1Mbs
• Allele Name: targeted mutation 1, Mitchell B Schaffler
• Allele ID: MGI:3767171
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctsk^tm1Mbs/Ctsk^tm1Mbs	B6.129-Ctsk^tm1Mbs	MGI:3767177

Genotype
MGI:3767177

hm1

• Allelic Composition: Ctsk^tm1Mbs/Ctsk^tm1Mbs
• Genetic Background: B6.129-Ctsk^tm1Mbs

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

skeleton

abnormal long bone diaphysis morphology ( J:128098 )

• increased thickness

• femoral mid-diaphyses show high levels of bone remodeling with 5 - 7 active remodeling sites detected in contrast to wild-type bones where no remodeling is detected

abnormal bone structure ( J:128098 )

increased osteoclast cell number ( J:128098 )

• about a 2- to 3-fold increase in osteoclast number and 45 - 65% increase in resportion surface

abnormal bone marrow cavity morphology ( J:128098 )

• reduced cavity size in long bones

abnormal compact bone morphology ( J:128098 )

• cortical bone contains both areas with normal lamellar structure as well as regions of disorganized bone matrix

increased compact bone area ( J:128098 )

• significant increase in long bone cortical bone area

abnormal trabecular bone morphology ( J:128098 )

• increase in endocortical resorption surface

increased bone trabecula number ( J:128098 )

• about a 2-fold increase in trabecular number throughout the metaphyseal region

increased trabecular bone mass ( J:128098 )

• about a 2- and 4-fold increase in trabecular bone mass in males and females, respectively, compared to wild-type mice

osteopetrosis ( J:128098 )

• mild osteopetrosis in cancellous bone regions

abnormal bone remodeling ( J:128098 )

• femoral mid-diaphyses show high levels of bone remodeling with 5 - 7 active remodeling sites detected in contrast to wild-type bones where no remodeling is detected

abnormal osteoblast physiology ( J:128098 )

• significant increase in mineral apposition rates and surface- and tissue area-based bone formation rates in cancellous bone

• however, there is no change in osteoblast number or in osteoid and mineralizing surfaces

abnormal osteoclast physiology ( J:128098 )

• cancellous bone displays highly abnormal resorption foci with shallow Howship's lacunae filled with a layer of unresorbed demineralized bone

• resorption lacunae are also overlain with flattened cells resembling bone lining cells rather than osteoclasts

fragile skeleton ( J:128098 )

• diaphyseal strength (maximum load) and stiffness are increased by 14% and 44%, respectively, compared to wild-type controls

• femurs show a 50 - 70% decrease in post yield deflection and a 30 - 40% decrease in work-to-failure compared to wild-type bones

hematopoietic system

increased osteoclast cell number ( J:128098 )

• about a 2- to 3-fold increase in osteoclast number and 45 - 65% increase in resportion surface

abnormal osteoclast physiology ( J:128098 )

• cancellous bone displays highly abnormal resorption foci with shallow Howship's lacunae filled with a layer of unresorbed demineralized bone

• resorption lacunae are also overlain with flattened cells resembling bone lining cells rather than osteoclasts

immune system

increased osteoclast cell number ( J:128098 )

• about a 2- to 3-fold increase in osteoclast number and 45 - 65% increase in resportion surface

abnormal osteoclast physiology ( J:128098 )

• cancellous bone displays highly abnormal resorption foci with shallow Howship's lacunae filled with a layer of unresorbed demineralized bone

• resorption lacunae are also overlain with flattened cells resembling bone lining cells rather than osteoclasts

cellular

abnormal osteoblast physiology ( J:128098 )

• significant increase in mineral apposition rates and surface- and tissue area-based bone formation rates in cancellous bone

• however, there is no change in osteoblast number or in osteoid and mineralizing surfaces