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| Nomenclature |
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Symbol:
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Csf1op
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Name:
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colony stimulating factor 1 (macrophage);
osteopetrosis
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MGI ID: |
MGI:1856333 |
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Synonyms: |
Csf-1op, Csf1- op, csfmop, Csfmop, M-, op |
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Gene:
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Csf1
Location:
Chr3:107741048-107760469 bp, - strand
Genetic Position: Chr3,
46.83 cM, cytoband F3
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Csf1op/Csf1op
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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B6;DW-Pou1f1dw
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: A single nucleotide (T) insertion 262 bp downstream from the initiation codon resulted in a frameshift and the creation of a stop codon 21 bp downstream of the insertion. (J:10519)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Phenotypic Similarity to Human Syndrome: Osteopetrosis, autosomal recessive in homozygous mice (J:26978)
Occlusion of the marrow cavities in young Csf1op/Csf1op mice leads to reduced hemopoiesis in the marrow, accompanied by splenomegaly and prolonged splenic hemopoiesis. The bone marrow is, however, seeded with the requisite hemopoietic precursor cells; and the reduced hemopoiesis in marrow is not due to direct effects of M-CSF (J:19549).
Bone marrow macrophages arrest in G1 phase in M-CSF deficient mice; the factor regulates cyclins involved in commitment of cells to S phase (J:14776). Bacterial translocation and lipopolysaccharide-induced morbidity and mortality are no different in Csf1op/Csf1op mice than in normal littermates (J:20379). Low levels of cytokines involved in immune reactions, found in 6 week old Csf1op homozygotes, recover to normal in these mice at older ages, as the bone marrow macrophage population is restored to normal (J:18531). Macrophage deficiencies in Csf1op/Csf1op mutants do not prevent them mounting normal T cell responses to infection (J:24207).
Intramuscular transplantation of myoblasts capable of producing M-CSF into Csf1op homozygotes introduces the factor into the circulation of the mutant mice along with macrophages, but only transiently. The induced M-CSF may have been bound by macrophages accumulating at the site of the transplant. Macrophages accumulate at the site of muscle damage due to transplantation or to control muscle insult, and the damage can be repaired in the osteopetrotic mice (J:38812).
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| References |
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Analysis Tools
