Trpv4^em2Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Trpv4^em2Lutzy
• Name: transient receptor potential cation channel, subfamily V, member 4; endonuclease-mediated mutation 2, Cathy Lutz
• MGI ID: MGI:8332032
• Synonyms: Trpv4^R232C
• Gene: Trpv4 Location: Chr5:114760213-114796482 bp, - strand Genetic Position: Chr5, 55.99 cM, cytoband F
• Alliance: Trpv4^em2Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Arginine codon 232 (AGA) in exon 4 was changed to cysteine (TGC) (p.R232C) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. 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). (J:352175)

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)