Wls^em2Jgg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Wls^em2Jgg
• Name: wntless WNT ligand secretion mediator; endonuclease-mediated mutation 2, Joseph G Gleeson
• MGI ID: MGI:7541266
• Synonyms: Wls^Y478C
• Gene: Wls Location: Chr3:159545309-159644300 bp, + strand Genetic Position: Chr3, 82.65 cM
• Alliance: Wls^em2Jgg page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a tyrosine to cysteine substitution at amino acid 478 (p.Y478C). This is a pathogenic variant identified in children with Zaki syndrome consisting of multiorgan defects, microcephaly and facial dysmorphism. (J:341542)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Wls Mutation: 38 strains or lines available

References

• Original: J:341542 Chai G, et al., A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. N Engl J Med. 2021 Sep 30;385(14):1292-1301
• All: 1 reference(s)