Phenotypes associated with this allele

• Allele Symbol: Tm4sf19^em1Sjkm
• Allele Name: endonuclease-mediated mutation 1, Seong-Jin Kim
• Allele ID: MGI:7567663
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tm4sf19^em1Sjkm/Tm4sf19^em1Sjkm	C57BL/6J-Tm4sf19^em1Sjkm	MGI:7781796

Genotype
MGI:7781796

hm1

• Allelic Composition: Tm4sf19^em1Sjkm/Tm4sf19^em1Sjkm
• Genetic Background: C57BL/6J-Tm4sf19^em1Sjkm

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

skeleton

abnormal osteoclast differentiation ( J:343322 )

• osteoclasts derived from bone marrow macrophages grown in the presence of M-CSF and RANKL show inhibition of osteoclast multinucleation, despite the presence of TRAP+ mononuclear cells

• osteoclasts still fail to form multinucleated osteoclasts when M-CSF concentration is increased

• during osteoclast differentiation, osteoclasts form actin rings but do not form actin belts and differentiation-related markers are reduced

• an increase in trabecular bone mass and decrease in osteoclast activity on the trabecular surface suggests inhibited osteoclast differentiation

• however, serum TRAcP 5b levels are normal, indicating normal osteoclast numbers

• however, osteoblast differentiation and function are unaffected and no difference in epiphyseal cartilage are seen

abnormal osteoclast physiology ( J:343322 )

• bone resorption activity is reduced in osteoclasts

• however, no difference in the rate of bone formation is seen

increased bone mineral density ( J:343322 )

♀ • 3-month-old females exhibit an increase in total bone mineral density of femur and lumbar vertebrae

♀ • the gradual decrease in total bone mineral density of the femur and lumbar spine over time that is seen in wild-type mice is not seen in mutant mice

increased bone mineral density of lumbar vertebrae ( J:343322 )

♀

increased bone mineral density of femur ( J:343322 )

♀ • total bone mineral density of the femur is increased in 3-month-old females

increased bone volume ( J:343322 )

♀ • percent bone volume/tissue volume (BV/TV) ratio is increased in 3-month-old females

increased bone trabecula number ( J:343322 )

♀ • trabecular number of the femur are increased in 3-month-old females

decreased bone trabecular spacing ( J:343322 )

♀ • trabecular spacing of the femur is decreased in 3-month-old females

increased bone mass ( J:343322 )

♀ • bone mass is increased in young and aged females

increased trabecular bone mass ( J:343322 )

♀

hematopoietic system

abnormal osteoclast differentiation ( J:343322 )

• osteoclasts derived from bone marrow macrophages grown in the presence of M-CSF and RANKL show inhibition of osteoclast multinucleation, despite the presence of TRAP+ mononuclear cells

• osteoclasts still fail to form multinucleated osteoclasts when M-CSF concentration is increased

• during osteoclast differentiation, osteoclasts form actin rings but do not form actin belts and differentiation-related markers are reduced

• an increase in trabecular bone mass and decrease in osteoclast activity on the trabecular surface suggests inhibited osteoclast differentiation

• however, serum TRAcP 5b levels are normal, indicating normal osteoclast numbers

• however, osteoblast differentiation and function are unaffected and no difference in epiphyseal cartilage are seen

abnormal osteoclast physiology ( J:343322 )

• bone resorption activity is reduced in osteoclasts

• however, no difference in the rate of bone formation is seen

immune system

abnormal osteoclast differentiation ( J:343322 )

• osteoclasts derived from bone marrow macrophages grown in the presence of M-CSF and RANKL show inhibition of osteoclast multinucleation, despite the presence of TRAP+ mononuclear cells

• osteoclasts still fail to form multinucleated osteoclasts when M-CSF concentration is increased

• during osteoclast differentiation, osteoclasts form actin rings but do not form actin belts and differentiation-related markers are reduced

• an increase in trabecular bone mass and decrease in osteoclast activity on the trabecular surface suggests inhibited osteoclast differentiation

• however, serum TRAcP 5b levels are normal, indicating normal osteoclast numbers

• however, osteoblast differentiation and function are unaffected and no difference in epiphyseal cartilage are seen

abnormal osteoclast physiology ( J:343322 )

• bone resorption activity is reduced in osteoclasts

• however, no difference in the rate of bone formation is seen

cellular

abnormal osteoclast differentiation ( J:343322 )

• during osteoclast differentiation, osteoclasts form actin rings but do not form actin belts and differentiation-related markers are reduced

• osteoclasts derived from bone marrow macrophages grown in the presence of M-CSF and RANKL show inhibition of osteoclast multinucleation, despite the presence of TRAP+ mononuclear cells

• osteoclasts still fail to form multinucleated osteoclasts when M-CSF concentration is increased

• an increase in trabecular bone mass and decrease in osteoclast activity on the trabecular surface suggests inhibited osteoclast differentiation

• however, serum TRAcP 5b levels are normal, indicating normal osteoclast numbers

• however, osteoblast differentiation and function are unaffected and no difference in epiphyseal cartilage are seen