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CRISPR/Cas9 technology replaced exon 2 with a modified exon 2 containing an A to T missense mutation (c.349A>T) which results in an isoleucine to phenylalanine substitution at amino acid 117 (p.I117F) and a loxP-flanked neomycin-resistance gene following the mutant exon 2. The neomycin resistance gene was removed via cre-mediated recombination. The p.I117F mutation correlates to the p.I151F mutation in human. (J:344096)
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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
