Colq (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase) encodes the collagen-tail subunit of acetylcholinesterase in the neuromuscular junction. Mutations in Colq are associated with congenital myasthenic syndrome 5 (endplate cholinesterase deficiency). This ENU-induced mutation, tvrm92, was identified as a G to A conversion at the GT splice donor site of intron 14. Mice homozygous for the mutation have neuromuscular abnormalities characterized by impaired locomotion and fatigability. Mice also vocalize by making chirping sounds when breathing. The donating investigator indicates that homozygotes exhibit reduced fertility.

These ENU-induced tvrm92 mice carry a mutation in the splice donor site of Colq (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase) gene. Mice exhibit impaired locomotion, fatigability and abnormal vocalizations.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.