Thsd4^tm1.2Lysa
Targeted Allele Detail

Summary

• Symbol: Thsd4^tm1.2Lysa
• Name: thrombospondin, type I, domain containing 4; targeted mutation 1.2, Lynn Y Sakai
• MGI ID: MGI:7618765
• Gene: Thsd4 Location: Chr9:59874214-60429329 bp, - strand Genetic Position: Chr9, 32.38 cM
• Alliance: Thsd4^tm1.2Lysa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:346290
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: Exon 2 of the beta form, which is exon 8 of the alpha form, was flanked by loxP sites and an FRT-flanked neomycin cassette was inserted. This codes for part of the spacer region, a motif shared by other members of this family. Deletion leads to a frameshift variant with predicted loss of any remaining protein. Flp-mediated recombination removed the neomycin cassette. Exon2/8 was removed via cre-mediated recombination. (J:346290)

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 Thsd4 Mutation: 38 strains or lines available

References

• Original: J:346290 Elbitar S, et al., Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm. Genet Med. 2021 Jan;23(1):111-122
• All: 1 reference(s)