Analysis Tools
mortality/aging
|
• reduced numbers of homozygotes survive to weaning
|
growth/size/body
|
• severely atrophied white and intermediate muscle fibers are observed in the superficial region of the masseter muscle
• the progression and extent of atrophy differed among regions of the muscle
• the decrease in diameter of muscle fibers was larger than found in mice fed a granulated diet
• the decrease in sensory input due to underdevelopment of periodontal ligaments in the absence of teeth likely results in atrophy of the masseter muscle
|
|
• low body weight
(J:73663)
|
|
• slower growth rate
|
immune system
|
• 30% fewer Kupffer cells than normal littermates
• irregular distribution of Kupffer cells in liver lobules
• Kupffer cells possess phagocytized blood cells, poorly developed organelles and microvilli projections
|
|
• reduced numbers of perivascular macrophages (as identified by F4/80 staining) are found in parietal cortex
|
|
• consists mostly of thymic epithelial cells
|
|
• atrophic with numerous macrophages
|
|
• decreased numbers of macrophages in liver, spleen, bone marrow, kidney, subcutaneous tissue, uterus and ovary
(J:26978)
• macrophages exhibit intracytoplasmic organelles in splenic, thymic and bone marrow
(J:26978)
• macrophage organelles and microvillous projections are poorly developed
(J:26978)
• decreased numbers in spleen and marrow
(J:104139)
|
|
• TRAP+ cells (osteoclasts) were present in low numbers in the bony trabecula regions compared to controls
|
|
• almost complete absence of monocytes in peripheral blood
|
|
• bone chimera experiments suggest hematopoietic precursors to Langerhans cells have reduced capability to differentiate into Langerhan cells when skin is inflammed
|
|
• absence of Langerhans cells in newborns but numbers recover in adults
|
|
• reduced numbers of microglial cells in frontal cortex, parietal cortex and corpus callosum
• microglial cells in frontal cortex have smaller cell bodies and shorter cytoplasmic processes
|
|
• reduced size and number of multinuclear osteoclasts
|
|
• daily injection of exogenous M-CSF recruits functional osteoclasts
(J:4732)
• minimally a single injection of 5 micrograms rhM-CSF is needed for transient recruitment of osteoclasts
(J:4732)
• linked to impaired remodeling of bone and no marrow cavity formation in long bones
(J:19549)
|
|
• extensive extramedullary hematopoiesis
|
|
• increased concentration of CFU-S cells, however , size and differentiation pattern of spleen colonies is normal
• spleen mostly composed of fibroblastoid cells
• reduced number of macrophages
|
|
• mutants have prolonged hemopoiesis
|
|
• Langerhan cell numbers are slow to recover after UV irradiation
• two weeks after UV irradiation, numbers are 25% compared to unirradiated mutant mice while at the same timepoint irradiated wild-type LC numbers are close to 100% of control
|
skeleton
|
• parietal bone grows only through the trabecular bone formation with no subperiosteal bone lamellae forming as in normal mice
|
domed cranium
(
J:18356
)
|
• flat bone grows without resorption while keeping the normal primary curvature resulting in a more globular skull
|
|
• reduced size and number of multinuclear osteoclasts
|
|
• daily injection of exogenous M-CSF recruits functional osteoclasts
(J:4732)
• minimally a single injection of 5 micrograms rhM-CSF is needed for transient recruitment of osteoclasts
(J:4732)
• linked to impaired remodeling of bone and no marrow cavity formation in long bones
(J:19549)
|
|
• TRAP+ cells (osteoclasts) were present in low numbers in the bony trabecula regions compared to controls
|
|
• distal end is wide, diaphysis does not have a well defined cortex
|
|
• proximal end is wide, diaphysis does not have a well defined cortex
|
|
• none in long bones where no bone remodeling occurs
(J:19549)
• apparent at postnatal Day 2 and by Day 7 femoral marrow cellularity and progenitor cell content was significantly reduced
(J:19549)
• reduced numbers of hematopoietic cells
(J:26978)
|
|
• femoral bone marrow cellularity is reduced early but recovers to control levels by 8 months of age
|
|
• excessive amount of bone trabeculae
(J:26978)
• higher amounts of bony trabeculae
(J:73663)
|
|
• in long bones, therefore no marrow cavity formation
|
reproductive system
necrospermia
(
J:34371
)
 |
• percentage of dead sperm is two times higher than controls
|
|
|
• epididymal sperm count 60% lower than control
|
 |
• lobulo-alveolar development is premature and occupies 56% of mammary gland by day 18 of pregnancy
|
|
|
• as a percentage of body weight, testicular tissue is increased over controls
|
|
|
• endometrium is hypoplastic
|
|
|
• myometrium is hypoplastic
|
|
|
• poor development of glandular epithelia
|
|
|
• males take 5 times longer to mate than controls
• males mate on the first night, but not on subsequent nights in timed mating experiments
|
nervous system
|
• reduced numbers of microglial cells in frontal cortex, parietal cortex and corpus callosum
• microglial cells in frontal cortex have smaller cell bodies and shorter cytoplasmic processes
|
|
• 100 to 200 fibrillar plaques observed in cerebral cortex
• 20 to 60 plaques observed in amygdala and hypothalamus
• small number of plaques observed in hippocampus
|
|
• hippocampal neuron loss in CA1 and CA3 regions
|
hematopoietic system
|
• 30% fewer Kupffer cells than normal littermates
• irregular distribution of Kupffer cells in liver lobules
• Kupffer cells possess phagocytized blood cells, poorly developed organelles and microvilli projections
|
|
• reduced numbers of perivascular macrophages (as identified by F4/80 staining) are found in parietal cortex
|
|
• consists mostly of thymic epithelial cells
|
|
• atrophic with numerous macrophages
|
|
• observed in splenic red pulp
|
|
• number of cells 10 fold less than controls
• marrow mostly composed of fibroblastoid cells
• reduced numbers of CFU-S cells
|
|
• decreased numbers of macrophages in liver, spleen, bone marrow, kidney, subcutaneous tissue, uterus and ovary
(J:26978)
• macrophages exhibit intracytoplasmic organelles in splenic, thymic and bone marrow
(J:26978)
• macrophage organelles and microvillous projections are poorly developed
(J:26978)
• decreased numbers in spleen and marrow
(J:104139)
|
|
• TRAP+ cells (osteoclasts) were present in low numbers in the bony trabecula regions compared to controls
|
|
• almost complete absence of monocytes in peripheral blood
|
|
• bone chimera experiments suggest hematopoietic precursors to Langerhans cells have reduced capability to differentiate into Langerhan cells when skin is inflammed
|
|
• absence of Langerhans cells in newborns but numbers recover in adults
|
|
• reduced numbers of microglial cells in frontal cortex, parietal cortex and corpus callosum
• microglial cells in frontal cortex have smaller cell bodies and shorter cytoplasmic processes
|
|
• reduced size and number of multinuclear osteoclasts
|
|
• daily injection of exogenous M-CSF recruits functional osteoclasts
(J:4732)
• minimally a single injection of 5 micrograms rhM-CSF is needed for transient recruitment of osteoclasts
(J:4732)
• linked to impaired remodeling of bone and no marrow cavity formation in long bones
(J:19549)
|
|
• extensive extramedullary hematopoiesis
|
|
• increased concentration of CFU-S cells, however , size and differentiation pattern of spleen colonies is normal
• spleen mostly composed of fibroblastoid cells
• reduced number of macrophages
|
|
• mutants have prolonged hemopoiesis
|
liver/biliary system
|
• 30% fewer Kupffer cells than normal littermates
• irregular distribution of Kupffer cells in liver lobules
• Kupffer cells possess phagocytized blood cells, poorly developed organelles and microvilli projections
|
limbs/digits/tail
|
• distal end is wide, diaphysis does not have a well defined cortex
|
|
• proximal end is wide, diaphysis does not have a well defined cortex
|
endocrine/exocrine glands
|
• consists mostly of thymic epithelial cells
|
|
• atrophic with numerous macrophages
|
|
|
• postpartum females exhibit incompletely differentiated mammary gland tissue with a nonsecretory phenotype
• alveolar cells are cuboidal, contain large lipid vesicles and the lumen is small or unformed
|
|
|
• ductal structures are poorly developed with incomplete arborization
|
|
|
• lobulo-alveolar development is premature and occupies 56% of mammary gland by day 18 of pregnancy
|
|
|
• alveolar cells are cuboidal, contain large lipid vesicles and the lumen is small or unformed
|
|
|
• as a percentage of body weight, testicular tissue is increased over controls
|
|
|
• only 10% of females can lactate, however, lactation in this subset is inefficient
|
homeostasis/metabolism
|
• 100 to 200 fibrillar plaques observed in cerebral cortex
• 20 to 60 plaques observed in amygdala and hypothalamus
• small number of plaques observed in hippocampus
|
hearing/vestibular/ear
|
• delayed and diminished response to brainstem auditory evoked potential (BAEP)
|
|
• poorly formed or absent response to surface visual evoked potential (VEP)
|
cardiovascular system
|
• 30% fewer Kupffer cells than normal littermates
• irregular distribution of Kupffer cells in liver lobules
• Kupffer cells possess phagocytized blood cells, poorly developed organelles and microvilli projections
|
|
• reduced numbers of perivascular macrophages (as identified by F4/80 staining) are found in parietal cortex
|
craniofacial
|
• parietal bone grows only through the trabecular bone formation with no subperiosteal bone lamellae forming as in normal mice
|
domed cranium
(
J:18356
)
|
• flat bone grows without resorption while keeping the normal primary curvature resulting in a more globular skull
|
|
• severely atrophied white and intermediate muscle fibers are observed in the superficial region of the masseter muscle
• the progression and extent of atrophy differed among regions of the muscle
• the decrease in diameter of muscle fibers was larger than found in mice fed a granulated diet
• the decrease in sensory input due to underdevelopment of periodontal ligaments in the absence of teeth likely results in atrophy of the masseter muscle
|
muscle
|
• severely atrophied white and intermediate muscle fibers are observed in the superficial region of the masseter muscle
• the progression and extent of atrophy differed among regions of the muscle
• the decrease in diameter of muscle fibers was larger than found in mice fed a granulated diet
• the decrease in sensory input due to underdevelopment of periodontal ligaments in the absence of teeth likely results in atrophy of the masseter muscle
|
vision/eye
|
• total intracortical transmembrane current significantly reduced as measured by intracortical VEP
• altered neural firing as demonstrated by multiple unit activity (MUA) measurement
|
integument
|
|
• postpartum females exhibit incompletely differentiated mammary gland tissue with a nonsecretory phenotype
• alveolar cells are cuboidal, contain large lipid vesicles and the lumen is small or unformed
|
|
|
• ductal structures are poorly developed with incomplete arborization
|
|
|
• lobulo-alveolar development is premature and occupies 56% of mammary gland by day 18 of pregnancy
|
|
|
• alveolar cells are cuboidal, contain large lipid vesicles and the lumen is small or unformed
|
|
|
• only 10% of females can lactate, however, lactation in this subset is inefficient
|
cellular
necrospermia
(
J:34371
)
|
|
• percentage of dead sperm is two times higher than controls
|
|
|
• epididymal sperm count 60% lower than control
|
|
• daily injection of exogenous M-CSF recruits functional osteoclasts
(J:4732)
• minimally a single injection of 5 micrograms rhM-CSF is needed for transient recruitment of osteoclasts
(J:4732)
• linked to impaired remodeling of bone and no marrow cavity formation in long bones
(J:19549)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| osteopetrosis | DOID:13533 |
OMIM:PS259700 OMIM:PS607634 |
J:26978 | |
