Phenotypes associated with this allele

• Allele Symbol: Zbtb40^em1Clab
• Allele Name: endonuclease-mediated mutation 1, Cheryl Ackert-Bicknell
• Allele ID: MGI:6454063
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zbtb40^em1Clab/Zbtb40^em1Clab	C57BL/6J-Zbtb40^em1Clab	MGI:6458876

Genotype
MGI:6458876

hm1

• Allelic Composition: Zbtb40^em1Clab/Zbtb40^em1Clab
• Genetic Background: C57BL/6J-Zbtb40^em1Clab

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

skeleton

skeleton phenotype ( J:293133 )

N • at 16 weeks of age, both sexes show normal cortical bone morphology at the femoral mid-diaphysis with no differences in femoral cortical area and thickness or femoral strength relative to wild-type controls

impaired osteoblast differentiation ( J:293133 )

• in vitro, calvarial osteoblasts isolated from neonatal mice show a significant reduction in alkaline phosphatase (ALP) staining and activity, in Alizarin Red staining, and in mRNA levels of early (Col1a1, Runx2, and Sp7) and late (Bglap) osteoblast differentiation markers relative to wild-type osteoblasts

decreased bone mineral density of lumbar vertebrae ( J:293133 )

• at 16 weeks of age, males, but not females, show a significant reduction in lumbar spine (L4-L6) areal bone mineral density (aBMD) relative to wild-type controls

decreased areal bone mineral density ( J:293133 )

♂ • at 16 weeks of age, males, but not females, show a significant reduction in lumbar spine (L4-L6) areal bone mineral density (aBMD) relative to wild-type controls

♂ • however, femoral aBMD is normal is both sexes

decreased trabecular bone volume ( J:293133 )

♂ • at 16 weeks of age, males, but not females, show a significant reduction in bone volume/total volume (BV/TV) of trabecular bone in the L5 vertebrae relative to wild-type controls

decreased bone trabecula number ( J:293133 )

♂ • at 16 weeks of age, males, but not females, show a significant reduction in trabecular number of trabecular bone in the vertebral body of the L5 vertebrae relative to wild-type controls

decreased trabecular bone connectivity density ( J:293133 )

♂ • at 16 weeks of age, males, but not females, show a significant reduction in connectivity density of trabecular bone in the L5 vertebrae relative to wild-type controls

decreased trabecular bone mass ( J:293133 )

♂ • at 16 weeks of age, males, but not females, show a significant reduction in vertebral bone mass relative to wild-type controls

cellular

impaired osteoblast differentiation ( J:293133 )

• in vitro, calvarial osteoblasts isolated from neonatal mice show a significant reduction in alkaline phosphatase (ALP) staining and activity, in Alizarin Red staining, and in mRNA levels of early (Col1a1, Runx2, and Sp7) and late (Bglap) osteoblast differentiation markers relative to wild-type osteoblasts

homeostasis/metabolism

decreased alkaline phosphatase activity ( J:293133 )

• in vitro, calvarial osteoblasts isolated from neonatal mice show significantly reduced alkaline phosphatase (ALP) activity relative to wild-type osteoblasts