Trpv4^tm1Lutzy
Targeted Allele Detail

Summary

• Symbol: Trpv4^tm1Lutzy
• Name: transient receptor potential cation channel, subfamily V, member 4; targeted mutation 1, Cathy Lutz
• MGI ID: MGI:5661418
• Synonyms: Trpv4^R269C
• Gene: Trpv4 Location: Chr5:114760213-114796482 bp, - strand Genetic Position: Chr5, 55.99 cM, cytoband F
• Alliance: Trpv4^tm1Lutzy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:352175
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not specifed

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Arginine codon 269 (CGC) in exon 5 was changed to cysteine (TGC) (p.R269C) and a loxP site was inserted into intron 3 and a second loxP site and an FRT site flanked neomycin resistance gene cassette into intron 5. Additionally, an un-targeted p.E363K (c.1086_1087delGGinsAA) was found at positions chr5:114772642-114772643 (GRCm39). The neo cassette was removed through subsequent Flp-mediated recombination. The mutation, in the ankyrin repeat domain of the encoded protein, is the equivalent of the same human mutation associated with TRPV4 channelopathies distal spinal muscular atrophy (dSMA) and Charcot-Marie-Tooth disease type 2 (CMT2).
• Inheritance: Not Specified

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Trpv4 Mutation: 59 strains or lines available

References

• Original: J:352175 Sullivan JM, et al., Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice. Sci Transl Med. 2024 May 22;16(748):eadk1358
• All: 1 reference(s)