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The CRISPR/Cas9 system and sgRNA 5'-GATCAGCGCCCCTGATGTGG-3' was used. Mice contain three separate point mutations on chromosome 11: 60,778,032 (T>C), 60,778,048 (G>A), and 60,778,078 (G>A). The first mutation results in an isoleucine-to-threonine change in amino acid 2 (p.I2T) of the SMCR8 protein while the latter two are silent and result in no coding changes. (J:268243)
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
