CRISPR/Cas9 genome editing is used to introduce the R549X mutation, and the silent A548A mutation. The mouse Nek1 R549X mutation is equivalent to the human R550X NEK1 mutation and is associated with amyotrophic lateral sclerosis. (J:101977)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Nucleotide substitutions
--
1
11
--

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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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