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Phenotypes Associated with This Genotype
Genotype
MGI:3610379
Allelic
Composition
Csf1op/Csf1op
Genetic
Background
B6C3Fe a/a-Csf1op/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Csf1op mutation (1 available); any Csf1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Sagittal sections of Csf1op/Csf1+ and Csf1op/Csf1op mammary glands

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
• 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
• 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
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory