Csf3r^tm2Link
Targeted Allele Detail

Summary

• Symbol: Csf3r^tm2Link
• Name: colony stimulating factor 3 receptor; targeted mutation 2, Daniel C Link
• MGI ID: MGI:2384410
• Synonyms: d715, d715 G-CSFR
• Gene: Csf3r Location: Chr4:125918343-125938233 bp, + strand Genetic Position: Chr4, 59.77 cM
• Alliance: Csf3r^tm2Link page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78375
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A C to T mutation at nucleotide 2403 of the cDNA was introduced via site directed mutatgenesis and homologous recombination. The mutation generates a stop codon that truncates 96 carboxy terminal residues and thereby recapitulates a mutation observed in a human patient with both congenital neutropenia and acute myeloid leukemia. RT-PCR and restriction enzyme analyses showed that homozygous mutant mice lacked normal transcript and expressed mutant transcript at normal levels. (J:78375)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Csf3r Mutation: 42 strains or lines available

References

• Original: J:78375 McLemore ML, et al., Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. J Clin Invest. 1998 Aug 1;102(3):483-92
• All: 8 reference(s)