Pls3^em1Bult
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pls3^em1Bult
• Name: plastin 3 (T-isoform); endonuclease-mediated mutation 1, Carol Bult
• MGI ID: MGI:6302819
• Synonyms: Pls3^W499C
• Gene: Pls3 Location: ChrX:74829260-74918788 bp, - strand Genetic Position: ChrX, 38.3 cM
• Alliance: Pls3^em1Bult page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: This CRISPR/Cas9 mediated W499C (TGC to TGG) point substitution in exon 13 alters the actin binding domain. This models a variant identified in a family affected by congenital diaphragmatic hernia. (J:341714)
• Inheritance: Not Specified

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pls3 Mutation: 18 strains or lines available

References

• Original: J:341714 Petit F, et al., PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803
• All: 1 reference(s)