Tbl1xr1^em2H
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbl1xr1^em2H
• Name: transducin (beta)-like 1X-linked receptor 1; endonuclease-mediated mutation 2, Harwell
• MGI ID: MGI:7469825
• Synonyms: Tbl1xr1^Y446C
• Gene: Tbl1xr1 Location: Chr3:22130816-22270758 bp, + strand Genetic Position: Chr3, 7.58 cM
• Alliance: Tbl1xr1^em2H 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 an A to G (c.1337A>G) change resulting in a tyrosine to cysteine substitution at amino acid 446 (p.Y446C) in exon 14. This is a mutation reported as the genetic cause of Pierpont Syndrome. (J:335355)

Disease models

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 Tbl1xr1 Mutation: 322 strains or lines available

References

• Original: J:335355 Hu Y, et al., An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation. Hum Mol Genet. 2022 Aug 25;31(17):2951-2963
• All: 1 reference(s)