Sema4d^em1Xiji
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sema4d^em1Xiji
• Name: sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D; endonuclease-mediated mutation 1, Xiaojun Jiang
• MGI ID: MGI:7547368
• Synonyms: CD100^K848T, CD100^K849T
• Gene: Sema4d Location: Chr13:51839565-51947783 bp, - strand Genetic Position: Chr13, 26.16 cM, cytoband B1
• Alliance: Sema4d^em1Xiji page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Lysine codon 848 (AAG) in exon 16 (in ENSMUST00000021900) was changed to threonine (ACG) (p.K848T) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.K849T mutation which has been identified as the first causal mutation for primary sclerosing cholangitis (PSC). (J:302974)

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 Sema4d Mutation: 87 strains or lines available

References

• Original: J:302974 Jiang X, et al., A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis. Sci Transl Med. 2021 Feb 24;13(582)
• All: 1 reference(s)