Phenotypes Associated with This Genotype

Genotype
MGI:3850032

• Allelic Composition: Sost^tm1Paz/Sost^tm1Paz
• Genetic Background: involves: 129/Sv * Black Swiss

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

cellular

abnormal osteoblast physiology ( J:150166 )

• osteoblast surface is increased 1007% in males and 189% in females compared to in wild-type mice

skeleton

abnormal osteoblast physiology ( J:150166 )

• osteoblast surface is increased 1007% in males and 189% in females compared to in wild-type mice

long femur ( J:150166 )

• female mice exhibit a slightly longer femur than wild-type females

increased bone mineral content ( J:213541 )

increased bone mineral density ( J:150166 , J:213541 )

• mice exhibit increased radiodensity throughout the skeleton compared to in wild-type mice (J:150166)

• whole body bone mineral density is increased (J:213541)

increased areal bone mineral density ( J:150166 )

• areal bone mineral density in male mice is increased 62% for lumbar vertebrae and 55% for the whole leg compared with wild-type mice

increased bone mineral density of femur ( J:150166 )

• muCT analysis of distal femoral metaphysis and femur shaft shows increase in trabecular volumetric bone mineral density (+149% in males and +281% in female) compared to wild-type

increased bone volume ( J:213541 )

• bone volume fraction (BV/TV) is increased

increased compact bone volume ( J:150166 )

increased compact bone area ( J:150166 )

• static histomorphometric analysis shows increased cortical area (+78% in males and +55% in females) and periosteal perimeter (+17% in males, +21% in females) compared to in wild-type mice

• static histomorphometric analysis shows decreased endocortical perimeter (-20% in males and -14% in females) compared to in wild-type mice

abnormal trabecular bone morphology ( J:150166 )

• the metaphyseal region of distal femur exhibits an increase in trabecular bone compared to in wild-type mice

increased trabecular bone volume ( J:150166 )

• static histomorphometric analysis shows that trabecular bone volume is increased (+237% in males and +391% in females) compared to in wild-type mice

• muCT analysis of distal femoral metaphysis and femur shaft shows increase in trabecular bone volume (+146% in males and +224% in females) compared to in wild-type mice

increased bone trabecula number ( J:150166 )

• static histomorphometric analysis shows that trabecular number is increased (+37% in males and +57% in females) compared to in wild-type mice

increased trabecular bone thickness ( J:150166 )

• static histomorphometric analysis shows that trabecular thickness is increased (+146% in males and +219% in females) compared to in wild-type mice

increased bone mass ( J:213541 )

increased compact bone mass ( J:213541 )

increased trabecular bone mass ( J:213541 )

abnormal bone ossification ( J:150166 )

• dynamic histomorphometric analysis of the femur midshaft shows increased cortical bone formation with increase periosteal mineralization surface (+194% in males, 249% in females), periosteal mineral apposition rate (143% in males), periosteal bone formation rate (+396% in males), endocortical minearal apposition rate (+1402% in males, +269% in females), endocortical mineral apposition rate (+1249% in males, +102% in females), and endocortical bone formation (+7891% in males and +499% in females) compared to in wild-type mice

• bone volume is increased in the trabecular and cortical compartments compared to in wild-type mice

abnormal bone mineralization ( J:213541 )

• mineral apposition rates and bone formation rates are increased

increased bone stiffness ( J:213541 )

increased bone strength ( J:150166 , J:213541 )

• in a compression testing, lumbar vertebrae exhibit a higher maximum load (+243% in males and +188% in females), stiffness (+93% in males), and energy failure (+415% in males and +556% in females) compared to in wild-type mice (J:150166)

• in a three-point bend testing, femur diaphysis exhibit a higher maximum load (+132% in males and +154% in females), stiffness (+87% in males and +119% in females), and energy failure (+83% in males and +198% in females) compared to in wild-type mice (J:150166)

• bones show increased ultimate force, energy to failure, and stiffness, indicating enhanced bone strength (J:213541)

growth/size/body

increased body weight ( J:150166 )

• female mice exhibit a slightly higher body weight than wild-type females

limbs/digits/tail

long femur ( J:150166 )

• female mice exhibit a slightly longer femur than wild-type females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sclerosteosis 1		DOID:0060756	OMIM:269500	J:213541