Phenotypes associated with this allele

• Allele Symbol: Csf1^tm1.2Sabw
• Allele Name: targeted mutation 1.2, Sherry Abboud Werner
• Allele ID: MGI:5305707
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Csf1^tm1.2Sabw/Csf1^tm1.2Sabw	involves: 129S4/SvJaeSor * C57BL/6	MGI:5305713

Genotype
MGI:5305713

hm1

• Allelic Composition: Csf1^tm1.2Sabw/Csf1^tm1.2Sabw
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6

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

skeleton

increased osteocyte apoptosis ( J:180199 )

• osteocyte apoptosis is increased

abnormal dental follicle morphology ( J:180199 )

• mice exhibit a narrow dental follicle invaded by bone unlike control mice

abnormal dentin mineralization ( J:180199 )

• mice exhibit an irregular mineralization front and unevenly mineralized dentin compared with control mice

abnormal predentin morphology ( J:180199 )

• mice exhibit a widened predentin layer

failure of tooth eruption ( J:180199 )

abnormal tooth root development ( J:180199 )

• mice exhibit impaired root formation

domed cranium ( J:180199 )

increased width of hypertrophic chondrocyte zone ( J:180199 )

increased long bone epiphyseal plate size ( J:180199 )

• enlarged radiolucent growth plates in hind limbs

decreased length of long bones ( J:180199 )

abnormal bone structure ( J:180199 )

• collagen fibrils are decreased, short, and in loose clusters that lack lamellar structures

decreased osteoclast cell number ( J:180199 )

abnormal bone marrow cavity morphology ( J:180199 )

• decreased marrow space associated with osteopetrosis

abnormal compact bone morphology ( J:180199 )

• intramedullary trabeculae and poorly demarcated cortical bone from the marrow cavity

• cortical bone is interrupted by marrow elements and displays variable matrix density, randomly scattered osteocytes, and irregularly distributed osteoblasts

decreased compact bone thickness ( J:180199 )

abnormal osteoblast morphology ( J:180199 )

• osteoblasts are disorganized with loss of polarity, progressive flattening, focal detachment, loss from trabecular, and abnormal entrapment in matrix compared to in control mice

impaired osteoblast differentiation ( J:180199 )

abnormal osteocyte morphology ( J:180199 )

• irregularly shaped and abnormally clustered within lacunar spaces

• osteocyte maturation is impaired

abnormal osteocyte dendritic process morphology ( J:180199 )

• deformed osteocytes with very few dendrites and a significant reduction in the overall density of the dendrite network

abnormal osteocyte lacuna morphology ( J:180199 )

• osteocyte lacunae are disorganized, decreased in number, and have rough walls

abnormal trabecular bone morphology ( J:180199 )

• intramedullary trabeculae and poorly demarcated cortical bone from the marrow cavity

• bone trabecular contain prominent cartilage cores extending into the marrow cavity

increased trabecular bone volume ( J:180199 )

increased bone trabecula number ( J:180199 )

decreased trabecular bone thickness ( J:180199 )

• slightly

increased bone mass ( J:180199 )

increased trabecular bone mass ( J:180199 )

osteopetrosis ( J:180199 )

• ostepoetrosis and micropetrosis

osteosclerosis ( J:180199 )

• in long bones

decreased bone mineralization ( J:180199 )

• mice exhibit increased unmineralized bone matrix compared with control mice

decreased bone resorption ( J:180199 )

fragile skeleton ( J:180199 )

immune system

increased T cell number ( J:180199 )

• in the spleen and peripheral blood

decreased lymphocyte cell number ( J:180199 )

• decreased B cells in the spleen

• increased T cells in the spleen

decreased B cell number ( J:180199 )

• in the spleen

• 3 times in all hematopoietic tissues

abnormal myeloid leukocyte morphology ( J:180199 )

• the number of CD11b+Gr1+ cells is increased in the bone marrow and spleen compared to in control mice

• myeloid cells are increased 2-fold in the bone marrow compared with control mice

• however, mice exhibit normal numbers of Cd11b+ myeloid cells in the peripheral blood

abnormal Kupffer cell morphology ( J:180199 )

• reduced in the centrilobular region

increased granulocyte number ( J:180199 )

• in the peripheral blood

decreased macrophage cell number ( J:180199 )

• in the dental pulp and other tissues including liver, spleen, lung, skin (both dermal macrophages and epidermal Langerhans cells), colon, kidney (in the cortex and medulla), testes (adjacent to Leydig cells), uterus, adipose tissue, synovium (along the synovial lining), tendon, thymus, and bone (periosteal and adjacent to osteoblasts lining the endosteal surface)

decreased osteoclast cell number ( J:180199 )

decreased monocyte cell number ( J:180199 )

• in the peripheral blood

small spleen ( J:180199 )

• 1.4-fold

decreased spleen weight ( J:180199 )

craniofacial

abnormal dental follicle morphology ( J:180199 )

• mice exhibit a narrow dental follicle invaded by bone unlike control mice

abnormal dentin mineralization ( J:180199 )

• mice exhibit an irregular mineralization front and unevenly mineralized dentin compared with control mice

abnormal predentin morphology ( J:180199 )

• mice exhibit a widened predentin layer

failure of tooth eruption ( J:180199 )

abnormal tooth root development ( J:180199 )

• mice exhibit impaired root formation

domed cranium ( J:180199 )

growth/size/body

abnormal dental follicle morphology ( J:180199 )

• mice exhibit a narrow dental follicle invaded by bone unlike control mice

abnormal dentin mineralization ( J:180199 )

• mice exhibit an irregular mineralization front and unevenly mineralized dentin compared with control mice

abnormal predentin morphology ( J:180199 )

• mice exhibit a widened predentin layer

failure of tooth eruption ( J:180199 )

abnormal tooth root development ( J:180199 )

• mice exhibit impaired root formation

decreased body weight ( J:180199 )

postnatal growth retardation ( J:180199 )

cardiovascular system

abnormal Kupffer cell morphology ( J:180199 )

• reduced in the centrilobular region

cellular

increased osteocyte apoptosis ( J:180199 )

• osteocyte apoptosis is increased

impaired osteoblast differentiation ( J:180199 )

liver/biliary system

abnormal Kupffer cell morphology ( J:180199 )

• reduced in the centrilobular region

hematopoietic system

decreased bone marrow cell number ( J:180199 )

• 15-fold reduction in total cells

increased T cell number ( J:180199 )

• in the spleen and peripheral blood

decreased lymphocyte cell number ( J:180199 )

• decreased B cells in the spleen

• increased T cells in the spleen

decreased B cell number ( J:180199 )

• in the spleen

• 3 times in all hematopoietic tissues

abnormal myeloid leukocyte morphology ( J:180199 )

• the number of CD11b+Gr1+ cells is increased in the bone marrow and spleen compared to in control mice

• myeloid cells are increased 2-fold in the bone marrow compared with control mice

• however, mice exhibit normal numbers of Cd11b+ myeloid cells in the peripheral blood

abnormal Kupffer cell morphology ( J:180199 )

• reduced in the centrilobular region

increased granulocyte number ( J:180199 )

• in the peripheral blood

decreased macrophage cell number ( J:180199 )

• in the dental pulp and other tissues including liver, spleen, lung, skin (both dermal macrophages and epidermal Langerhans cells), colon, kidney (in the cortex and medulla), testes (adjacent to Leydig cells), uterus, adipose tissue, synovium (along the synovial lining), tendon, thymus, and bone (periosteal and adjacent to osteoblasts lining the endosteal surface)

decreased osteoclast cell number ( J:180199 )

decreased monocyte cell number ( J:180199 )

• in the peripheral blood

small spleen ( J:180199 )

• 1.4-fold

decreased spleen weight ( J:180199 )