Tonsl^em1Tjch
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tonsl^em1Tjch
• Name: tonsoku-like, DNA repair protein; endonuclease-mediated mutation 1, Tae-Joon Cho
• MGI ID: MGI:6389087
• Synonyms: Tonsl^Arg924Trp
• Gene: Tonsl Location: Chr15:76510437-76524129 bp, - strand Genetic Position: Chr15, 36.18 cM
• Alliance: Tonsl^em1Tjch page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology was used to generate a C to T change in exon 18 resulting in an arginine to tryptophan mutation at amino acid 924 (R924W). This mutation corresponds to the human p.Arg934Trp variant found in patients with SPONASTRIME dysplasia. Two lines are reported, lines A and B, and line A has been chosen as the representative line and entered as this allele. (J:282817)

Expression

In Structures Affected by this Mutation:

2 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 Tonsl Mutation: 55 strains or lines available

References

• Original: J:282817 Chang HR, et al., Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. Am J Hum Genet. 2019 Mar 7;104(3):439-453
• All: 1 reference(s)