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Phenotypes Associated with This Genotype
Genotype
MGI:3815037
Allelic
Composition
Ly6atm1Pmf/Ly6atm1Pmf
Genetic
Background
C.129P2-Ly6atm1Pmf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ly6atm1Pmf mutation (0 available); any Ly6a mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the number of ostoblast colony forming units cultured from bone marrow of 2-month old mice is half that of controls
• in vitro bone nodule formation is reduced by more than half in these bone marrow cultures
• committed osteoblast progenitors have a 7% increase in doubling time compared to controls
• the number of osteoblast progenitors isolated from bone marrow cultures is reduced
• however, the ratio of osteoblast progenitors to total number of stromal progenitors is the same
• osteoblast and splenic co-cultures generated less than 10% of the osteoclasts found in co-cultures of wild-type cells
• when mutant osteoblastic cells were used with wild-type splenocytes, markedly reduced numbers of wild-type osteoclasts are generated indicating a primary stromal cell defect in osteoclastogenesis
• bone formation is essentially normal at 2 months of age but is dramatically reduced by 6 months of age
• the absolute number of osteoclasts is reduced by more than 40% in both 2- and 9- month old femurs
• osteoblast and splenic co-cultures generated less than 10% of the osteoclasts found in co-cultures of wild-type cells
• bone mineral content does not change between 2 months of age to 12 months of age while mineral content is increased in wild-type mice during this time period
• femurs have 27% fewer trabeculae compared with control bones at 4 months of age and 58% compared with bones at 15 months of age
• mice one year of age have the same bone mass density as 8 week old mice, which is significantly less than the bone mass of one year old wild-type mice
• the greatest decrease in bone mass density occurs in vertebrae
• the percent of osteoid in femurs are significantly lower in both 4- and 15- month old bones
• bone formation is essentially normal at 2 months of age but is dramatically reduced by 6 months of age
• compression testing of 15-month old vertebrae shows the bone is not as stiff and is substantially weaker and more compliant than bones from wild-type animals
• the yield stress and failure stress of vertebrae are reduced by about a third while the elastic modulus is half that of controls
• femurs from 15-month-old mice have a similar stiffness to wild-type bones but are weaker and considerably more brittle

hematopoietic system
• osteoblast and splenic co-cultures generated less than 10% of the osteoclasts found in co-cultures of wild-type cells
• when mutant osteoblastic cells were used with wild-type splenocytes, markedly reduced numbers of wild-type osteoclasts are generated indicating a primary stromal cell defect in osteoclastogenesis
• the total number of stromal progenitors found in bone marrow is reduced in 2- and 7- month old mice by 45% and 67%, respectively, compared to controls
• serial passaging of bone marrow stromal cultures reduces the number of stromal progenitors by more than half per passage, indicating a defect in self renewal
• the absolute number of osteoclasts is reduced by more than 40% in both 2- and 9- month old femurs
• osteoblast and splenic co-cultures generated less than 10% of the osteoclasts found in co-cultures of wild-type cells

adipose tissue
• bone marrow stroma contains two-thirds less adipocyte progenitors than controls

immune system
• osteoblast and splenic co-cultures generated less than 10% of the osteoclasts found in co-cultures of wild-type cells
• when mutant osteoblastic cells were used with wild-type splenocytes, markedly reduced numbers of wild-type osteoclasts are generated indicating a primary stromal cell defect in osteoclastogenesis
• the absolute number of osteoclasts is reduced by more than 40% in both 2- and 9- month old femurs
• osteoblast and splenic co-cultures generated less than 10% of the osteoclasts found in co-cultures of wild-type cells

cellular
• the number of ostoblast colony forming units cultured from bone marrow of 2-month old mice is half that of controls
• in vitro bone nodule formation is reduced by more than half in these bone marrow cultures
• committed osteoblast progenitors have a 7% increase in doubling time compared to controls
• the number of osteoblast progenitors isolated from bone marrow cultures is reduced
• however, the ratio of osteoblast progenitors to total number of stromal progenitors is the same
• osteoblast and splenic co-cultures generated less than 10% of the osteoclasts found in co-cultures of wild-type cells
• when mutant osteoblastic cells were used with wild-type splenocytes, markedly reduced numbers of wild-type osteoclasts are generated indicating a primary stromal cell defect in osteoclastogenesis
• bone formation is essentially normal at 2 months of age but is dramatically reduced by 6 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoporosis DOID:11476 OMIM:166710
J:83409


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory