Model Characteristics - Model:
Nf1+/-
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Model Descriptor |
Nf1+/-
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Official Nomenclature |
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Genotype |
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Species |
Mouse (Mus musculus)
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Strain |
129
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Is This a Tool Strain? |
No
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Developmental Stage (applies only to Zebrafish) |
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Experimental Design |
One allele of Nf1 gene was disrupted by replacing the first 42 codons of exon 31 with neomycine resistance gene.
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Phenotype |
Human neurofibromatosis type 1 is a dominant disease caused by the inheritance of a mutant allele of the NF1 gene. In order to study NF1 function, we have constructed a mouse strain carrying a germline mutation in the murine homologue. Heterozygous animals do not exhibit the classical symptoms of the human disease, but are highly predisposed to the formation of various tumour types, notably phaeochomocytoma, a tumour of the neural crest-derived adrenal medulla, and myeloid leukaemia, both of which occur with increased frequency in human NF1 patients. The wild-type Nf1 allele is lost in approximately half of the tumours from heterozygous animals. In addition, homozygosity for the Nf1 mutation leads to abnormal cardiac development and mid-gestational embryonic lethality. Animals on the mixed (129, B6) and inbred 129 genetic background exhibited the same heterozygous and homozygous mutant phenotypes.
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Website for add. info |
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Breeding Notes |
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Sex Distribution of the Phenotype |
Both Sexes
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Submitted by |
Jacks, Tyler
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Principal Investigator / Lab |
Jacks, Tyler
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Comment |
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Model Availability: This model is available from |
Strain |
Distributor |
Stock number |
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