Phenotypes associated with this allele

• Allele Symbol: Atp6v1h^em1Xhd
• Allele Name: endonuclease-mediated mutation 1, Xiaohong Duan
• Allele ID: MGI:5828914
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp6v1h^em1Xhd/Atp6v1h^em1Xhd	involves: C57BL/6	MGI:5829029
ht2	Atp6v1h^em1Xhd/Atp6v1h^+	involves: C57BL/6	MGI:5829030

Genotype
MGI:5829029

hm1

• Allelic Composition: Atp6v1h^em1Xhd/Atp6v1h^em1Xhd
• Genetic Background: involves: C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:239439 )

• mice die before E10

Genotype
MGI:5829030

ht2

• Allelic Composition: Atp6v1h^em1Xhd/Atp6v1h⁺
• Genetic Background: involves: C57BL/6

skeleton

abnormal osteoclast differentiation ( J:239439 )

• primary bone marrow cells cultured with receptor activator of nuclear factor kappa-B ligand (RANKL) and macrophage colony-stimulating factor (M-CSF) produce fewer, but normal-sized, osteoclast compared with wild-type cells

• primary bone marrow cells cultured with RANKL and M-CSF on an osteoassay microplate produce fewer and smaller osteoclasts compared with wild-type cells

abnormal osteoclast physiology ( J:239439 )

• altered resorptive ability

decreased bone volume ( J:239439 )

abnormal osteoblast morphology ( J:239439 )

• reduced size

decreased osteoblast cell number ( J:239439 )

• in the distal femur

decreased trabecular bone thickness ( J:239439 )

decreased bone mass ( J:239439 )

osteoporosis ( J:239439 )

abnormal cartilage development ( J:239439 )

• reduced cartilage formation

decreased bone mineralization ( J:239439 )

decreased bone ossification ( J:239439 )

homeostasis/metabolism

increased circulating calcium level ( J:239439 )

• slightly

decreased circulating phosphate level ( J:239439 )

increased circulating alkaline phosphatase level ( J:239439 )

decreased alkaline phosphatase activity ( J:239439 )

• osteoclast numbers and size in the distal femur are normal

hematopoietic system

hematopoietic system phenotype ( J:239439 )

N • osteoclast numbers and size in the distal femur are normal

abnormal osteoclast differentiation ( J:239439 )

• primary bone marrow cells cultured with receptor activator of nuclear factor kappa-B ligand (RANKL) and macrophage colony-stimulating factor (M-CSF) produce fewer, but normal-sized, osteoclast compared with wild-type cells

• primary bone marrow cells cultured with RANKL and M-CSF on an osteoassay microplate produce fewer and smaller osteoclasts compared with wild-type cells

abnormal osteoclast physiology ( J:239439 )

• altered resorptive ability

cellular

abnormal osteoclast differentiation ( J:239439 )

• primary bone marrow cells cultured with receptor activator of nuclear factor kappa-B ligand (RANKL) and macrophage colony-stimulating factor (M-CSF) produce fewer, but normal-sized, osteoclast compared with wild-type cells

• primary bone marrow cells cultured with RANKL and M-CSF on an osteoassay microplate produce fewer and smaller osteoclasts compared with wild-type cells

immune system

abnormal osteoclast differentiation ( J:239439 )

• primary bone marrow cells cultured with receptor activator of nuclear factor kappa-B ligand (RANKL) and macrophage colony-stimulating factor (M-CSF) produce fewer, but normal-sized, osteoclast compared with wild-type cells

• primary bone marrow cells cultured with RANKL and M-CSF on an osteoassay microplate produce fewer and smaller osteoclasts compared with wild-type cells

abnormal osteoclast physiology ( J:239439 )

• altered resorptive ability