CRISPR/Cas9 genome editing is used to create a guide RNA (TGCTGCGCGGCAGCGTCCGAAGG) designed to change AGC to GCC, resulting in a serine to alanine change at mouse amino acid 303, analogous to amino acid 282 in humans. Since this gene has two start sites, this amino acid would be S303A when cloned from the first alternative start site (MKEVPT). It is unknown if there are any off-target sites present. The mutation was confirmed by sequencing. (J:287503)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
2
1

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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