|  Help  |  About  |  Contact Us

Allele : Gne<em1Lx> glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; endonuclease-mediated mutation 1, Lijun Xia

Primary Identifier  MGI:7611836 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Null/knockout Gene  Gne
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Proline codon 735 (CCG) in exon 12 was changed to arginine (CGG) (c.2204C>G:p.P735R) using sgRNAs and an ssODN template with CRISPR/Cas9 technology. The mutation, in the N-acetylmannosamine (ManNAc) kinase domain of the encoded peptide, is the equivalent of the same human mutation associated with macrothrombocytopenia.
  • mutations:
  • Single point mutation
  • synonyms:
  • Gne<P735R>,
  • Gne<mt>,
  • Gne<mt>,
  • Gne<P735R>
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories