|  Help  |  About  |  Contact Us

Allele : Csf3r<tm2Link> colony stimulating factor 3 receptor; targeted mutation 2, Daniel C Link

Primary Identifier  MGI:2384410 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Csf3r
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • d715 G-CSFR,
  • d715,
  • d715 G-CSFR,
  • d715
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

10 Publication categories

Trail: Allele