Ntrk1^{tm1.1(NTRK1*)Cat}
Targeted Allele Detail

Summary

• Symbol: Ntrk1^{tm1.1(NTRK1*)Cat}
• Name: neurotrophic tyrosine kinase, receptor, type 1; targeted mutation 1.1, Antonio Cattaneo
• MGI ID: MGI:8233844
• Synonyms: TrkA^R649W
• Gene: Ntrk1 Location: Chr3:87685551-87702469 bp, - strand Genetic Position: Chr3, 38.62 cM
• Alliance: Ntrk1^{tm1.1(NTRK1*)Cat} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:370501
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Human NTRK1 cDNA cassette harboring the missense C to T mutation at the 1945 position which results in an arginine to tryptophan substitution at amino acid 649, polyA and loxP-flanked neomycin selection cassette replaced the mouse exon 1 locus. The neomycin selection cassette was removed via cre-mediated recombination. The R649W missense mutation, located in the tyrosine kinase domain (TKD), has been identified in patients with Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV). (J:370501)

Disease models

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 Ntrk1 Mutation: 58 strains or lines available

References

• Original: J:370501 Pacifico P, et al., Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV. Hum Mol Genet. 2023 Apr 6;32(8):1380-1400
• All: 1 reference(s)