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CRISPR-Cas9 technology was used to introduce a one-nucleotide duplication in exon 4, inducing a translational frameshift expected to lead to the complete absence of encoded protein or the production of a truncated protein. RT-PCR analysis of testis mRNA revealed that the level of mRNA amplification was significantly reduced in homozygous mutant mice. Sanger sequencing of mRNA confirmed the production of abnormal transcripts with a premature stop codon 12 nucleotides after the first modified codon at position 135. (J:279937)
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
