Mice homozygous for the Nf1tm1Fcr targeted mutation die during embryonic development due to severe heart malformation (~E13). They also show hyperplasia of neural crest-derived sympathetic ganglia. Heterozygotes do not exhibit any overt disease symptoms. However, as noted in another targeted mutation deleting the same exon of the Nf1 gene (Jacks, et al., Nat Genetics 7:353-361, 1994), they do show a predisposition to many types of tumors and were recently shown to have deficits in learning and memory (Silva, et al., Nat Genetics 15:281-284, 1997).
|Allele Name||targeted mutation 1, Fredrick Cancer Research and Development Center|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Nf1-; Nf1Fcr; Nf1mut|
|Gene Symbol and Name||Nf1, neurofibromin 1|
|Strain of Origin||129S/SvEv-Gpi1c|
|Molecular Note||Insertion of a neomycin cassette in the opposite transcriptional orientation into exon 31 of the Nf1 gene. Exon 31 was chosen as the mutation site because several point mutations exist at this site in human NF1 patients. This allele is a null allele; no RNA or protein is made from this mutated allele.|
|Mutations Made By|| |
Dr. Camilynn Brannan, Univ of Florida College of Medicine
When maintaining a live colony, heterozygous mice may be bred to wildtype siblings, or to C57BL/6J inbred mice (Stock No. 000664).
Homozygotes die during embryonic development due to severe heart malformation (~E13). The expected coat color from breeding is black.
When using the Nf1Fcr mouse strain in a publication, please cite the originating article(s) and include JAX stock #002646 in your Materials and Methods section.