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CRISPR/cas9 mediated recombination created a 4 bp insertion of TCTG in exon 1 disrupting an MscI recognition site (5'-TGGCCA-3') after the second G. This insertion resulted in a proline to serine mutation at amino acid 67 and a premature stop codon 13 amino acids later. Western blot analysis confirmed the absence of wild-type protein in homozygous mice. (J:266136)
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
