Allele/Variant

Csf3rtm2Link

Species
Mus musculus
Symbol
Csf3rtm2Link
Category
allele
Allele of gene
Csf3r
Transgenic Constructs
None
Synonyms
  • d715
  • d715 G-CSFR
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations