|  Help  |  About  |  Contact Us

Allele : Sema4d<em1Xiji> sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D; endonuclease-mediated mutation 1, Xiaojun Jiang

Primary Identifier  MGI:7547368 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Sema4d
Is Recombinase  false Is Wild Type  false
molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • CD100<K848T>,
  • CD100<K849T>,
  • CD100<K849T>,
  • CD100<K848T>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele