Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Nf1tm1Joe
Name:	neurofibromin 1; targeted mutation 1, Jonathan Epstein
MGI ID:	MGI:5634367
Synonyms:	Nf1GRD
Gene:	Nf1  Location: Chr11:79230519-79472438 bp, + strand  Genetic Position: Chr11, 46.74 cM, cytoband B4-5
Alliance:	Nf1tm1Joe page

Germline Transmission:	Earliest citation of germline transmission: J:94077
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	C57BL/6

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: To generate this mutant allele, an ACN targeting vector was designed to insert (by site-directed mutagenesis) a single amino acid substitution of arginine to proline at codon 1278 (p.R1278P). The ACN cassette contains a neomycin resistance gene and cre recombinase gene under the control of the sperm-specific angiotensin-converting enzyme promoter and is flanked by loxP sites. Cre-mediated recombination during spermatogenesis of chimeric males removes the cassette leaving a single loxP site in intron 27. The mutation is the equivalent of the human p.R1276P mutation. (J:94077)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nf1 Mutation:	157 strains or lines available

Original:	J:94077 Mutant Mouse Regional Resource Centers, Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC). Unpublished. 2004-2015;
All:	1 reference(s)