Lztr1^em2Tumg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lztr1^em2Tumg
• Name: leucine-zipper-like transcriptional regulator, 1; endonuclease-mediated mutation 2, Yoko Aoki
• MGI ID: MGI:8163715
• Synonyms: Lztr1^R409C
• Gene: Lztr1 Location: Chr16:17326552-17344197 bp, + strand Genetic Position: Chr16, 10.85 cM
• Alliance: Lztr1^em2Tumg page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change at position 1225C (c.1225C>T) resulting in an arginine to cystine substitution at amino acid 409 (p.R409C). This mutation corresponds to p.R412C identified in Noonan syndrome patients. (J:361054)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 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 Lztr1 Mutation: 37 strains or lines available

References

• Original: J:361054 Abe T, et al., Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice. JCI Insight. 2024 Nov 22;9(22)
• All: 1 reference(s)