Phenotypes associated with this allele

• Allele Symbol: Lrp5^tm1Grw
• Allele Name: targeted mutation 1, Georges Rawadi
• Allele ID: MGI:3612485
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lrp5^tm1Grw/Lrp5^tm1Grw	involves: 129S1/Sv * 129X1/SvJ	MGI:3615357
cx2	Lrp5^tm1Grw/Lrp5^tm1Grw Sost^tm1Paz/Sost^tm1Paz	involves: 129S1/Sv * 129X1/SvJ * Black Swiss	MGI:5632201

Genotype
MGI:3615357

hm1

• 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

Genotype
MGI:5632201

cx2

• Allelic Composition: Lrp5^tm1Grw/Lrp5^tm1Grw; Sost^tm1Paz/Sost^tm1Paz
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

skeleton

increased bone mineral content ( J:213541 )

• mice exhibit bone mineral content that is greater than in single Lrp5 homozygotes and intermediate between those of wild-type and single Sost homozygotes

increased bone mineral density ( J:213541 )

• mice exhibit whole-body mineral density that is greater than in single Lrp5 homozygotes and intermediate between those of wild-type and single Sost homozygotes

• however, mineral apposition rates and bone formation rates do not differ from wild-type mice but are increased compared to single Lrp5 homozygotes

increased bone volume ( J:213541 )

• mice exhibit bone volume fraction (BV/TV) values that are greater than in single Lrp5 homozygotes and are intermediate between those of wild-type and single Sost homozygotes

• females exhibit a greater increase in BV/TV than male mice

increased bone trabecula number ( J:213541 )

• females exhibit a greater increase in trabecular number than male mice

increased bone mass ( J:213541 )

increased compact bone mass ( J:213541 )

increased trabecular bone mass ( J:213541 )

increased bone stiffness ( J:213541 )

• increase in bone stiffness compared to wild-type mice and single Lrp5 homozygotes

increased bone strength ( J:213541 )

• bones show increased ultimate force, energy to failure, and stiffness, indicating enhanced bone strength compared to wild-type mice and single Lrp5 homozygotes