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EN
CRISPR/Cas9 technology generated a 2-bp deletion (AC) from nucleotide 389 to 390 in exon 2, leading to a frameshift mutation and a stop codon of TAG and resulting in premature termination of the protein at amino acid 131. Expression of mRNA is reduced in the cortex of homozygotes at E18 and P60. (J:322323)
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
