Log In|Sign Up
EN
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. (J:311491)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
