Mouse Genome Informatics
hm1
    Fzd9tm1Uta/Fzd9tm1Uta
involves: 129S6/SvEvTac * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• exhibit moderately reduced lifespans

immune system
• exhibit accelerated atrophy with age
• decreased total B-cell number in the bone marrow despite relatively normal numbers of mature B cells in the periphery
• reduction in CD43+B220+ pro/pre-B-cell populations
• older homozygous null mice have a high frequency of peripheral blood leukocytosis
• older homozygous null mice exhibit eosinophilia
• older homozygous null mice exhibit mild neutrophilia
• older homozygous null mice exhibit monocytosis
• reduction in CD43+B220+ pro/pre-B-cell populations
• expansion of the red pulp with increased extramedullary hematopoiesis and deposition of increased amounts of hemosiderin
• spleens are approximately twice the normal size by 6 months of age
• although the white pulp is intact, there is some expansion of the marginal zones
• variably distorted nodal architecture
• an accumulation of plasma cells that filled and distended the medullary cords and were present in large patches in the paracortical zones
• lymph nodes are frequently enlarged, even at 3 months of age, with more than 50% of older homozygous null mice showing enlarged lymph nodes

hematopoietic system
• exhibit accelerated atrophy with age
• decreased total B-cell number in the bone marrow despite relatively normal numbers of mature B cells in the periphery
• reduction in CD43+B220+ pro/pre-B-cell populations
• older homozygous null mice have a high frequency of peripheral blood leukocytosis
• older homozygous null mice exhibit eosinophilia
• older homozygous null mice exhibit mild neutrophilia
• older homozygous null mice exhibit monocytosis
• reduction in CD43+B220+ pro/pre-B-cell populations
• expansion of the red pulp with increased extramedullary hematopoiesis and deposition of increased amounts of hemosiderin
• spleens are approximately twice the normal size by 6 months of age
• although the white pulp is intact, there is some expansion of the marginal zones

behavior/neurological
N
• do not exhibit any neurological, reflex or behavioral problems or hyperacusis (J:98133)

endocrine/exocrine glands
• exhibit accelerated atrophy with age

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Williams-Beuren Syndrome; WBS 194050 J:98133


Mouse Genome Informatics
hm2
    Fzd9tm1Uta/Fzd9tm1Uta
involves: 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• reduction in vertebral bodies by 35% and 40% at 24 and 52 weeks of age, respectively
• reduction in cortical thickness of femurs
• 30% reduction is osteoblast number
• however, no differences in osteoclast number
• osteoblastogenesis defect
• 45% reduction in bone formation rate
• isolated bone marrow cells grown in culture exhibit reduced mineralization after differentiation into osteoblasts but normal osteoclastogenesis
• calvaria-derived osteoblasts grown in culture for up to 20 days exhibit poor mineralization
• calvaria-derived osteoblasts grown in culture in the presence of ascorbate and beta-glycerophosphate exhibit a decrease in proliferation at day 2 of differentiation
• vertebral bodies and femora exhibit decreased biomechanical competence

cellular
• osteoblastogenesis defect


Mouse Genome Informatics
ht3
    Fzd9tm1Uta/Fzd9+
involves: 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• reduction in cortical thickness of femurs
• decrease in bone rate formation
• vertebral bodies and femora exhibit decreased biomechanical competence

Mouse Models of Human Disease
OMIM IDRef(s)
Williams-Beuren Syndrome; WBS 194050 J:169924