Allele/Variant

Chrnb1tm1Sjb

Species
Mus musculus
Symbol
Chrnb1tm1Sjb
Category
allele
Allele of gene
Chrnb1
Transgenic Constructs
None
Synonyms
  • AChR-beta3F
Description
Point mutations were introduced into the endogenous gene by homologous recombination. Codon 357 was converted from TAC to TTC, codon 390 from TAT to TTT and codon 442 from TAC to TTC. Each of these changes is predicted to alter a conserved tyrosine residue in the encoded protein to a phenylalanine residue. These amino acids are in the large intracellular loop of the protein. An frt-flanked neomycin selection cassette in intron 10 was removed via Flp-mediated recombination, leaving a single frt site in intron 10 in the final allele. Affinity purification and western blotting experiments demonstrated that the encoded protein is expressed at similar levels to controls, but does not cross-react to a phosphotyrosine-specific monoclonal antibody directed at residue 390. Similar results were seen in immunohistology experiments.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations