|  Help  |  About  |  Contact Us

Allele : Clp1<em1Slac> CLP1, cleavage and polyadenylation factor I subunit; endonuclease-mediated mutation 1, Susan L Ackerman

Primary Identifier  MGI:6759435 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Clp1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 genome editing is used to introduce a G to A mutation (gRNA c.403-422; donor oligo c357-486 with c.419G to A and c.426C to A; NM_133840.2) at position 419 resulting in an arginine to histidine missense mutation (R140H) in the first coding exon (exon 2). The mutation homologous to one found in pontocerebellar hypoplasia type 10 (PCH10) patients.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Clp1<R140H>,
  • Clp1<R140H>
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

3 Publication categories