Phenotypes Associated with This Genotype

Genotype
MGI:3615357

• Allelic Composition: Lrp5^tm1Grw/Lrp5^tm1Grw
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Bone phenotype of Lrp5^tm1Grw/Lrp5^tm1Grw mice

skeleton

abnormal osteoblast physiology ( J:104382 )

• osteoblast function is diminished

abnormal bone structure ( J:104382 )

decreased osteoclast cell number ( J:104382 )

• decrease in osteoclast number in secondary spongiosa

decreased bone mineral content ( J:213541 )

decreased bone mineral density ( J:104382 , J:213541 )

• decrease in total bone mineral density, trabecular bone mineral density, trabecular thickness, trabecular number, mineralizing surface, and mineral apposition rate (J:104382)

• lithium chloride treatment improves bone formation in homozygotes (J:104382)

• female mice treated with a sclerostin antibody show improvement in bone properties and bone formation (J:213541)

decreased bone volume ( J:213541 )

decreased osteoblast cell number ( J:104382 )

• osteoblast number is reduced

abnormal trabecular bone morphology ( J:104382 )

• decrease in trabecular bone mineral density, trabecular thickness, and trabecular number

decreased bone mass ( J:104382 , J:213541 )

• reduction in bone mass because of a deficiency in osteoblast number and function (J:104382)

decreased compact bone mass ( J:213541 )

decreased trabecular bone mass ( J:213541 )

osteoporosis ( J:213541 )

decreased bone mineralization ( J:104382 , J:213541 )

• decrease in mineral apposition rate and mineralizing surface (J:104382)

♂ • mineral apposition rates and bone formation rates are decreased (J:213541)

♂ • mineralizing surface per unit bone surface is reduced in femurs (J:213541)

decreased bone ossification ( J:104382 )

• decrease in bone formation rate

decreased bone stiffness ( J:213541 )

decreased bone strength ( J:213541 )

• bones show decreased ultimate force, energy to failure, and stiffness, indicating decreased bone strength

hematopoietic system

decreased osteoclast cell number ( J:104382 )

• decrease in osteoclast number in secondary spongiosa

immune system

decreased osteoclast cell number ( J:104382 )

• decrease in osteoclast number in secondary spongiosa

cellular

abnormal osteoblast physiology ( J:104382 )

• osteoblast function is diminished

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteoporosis-pseudoglioma syndrome		DOID:0060849	OMIM:259770	J:213541