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CRISPR-targeting of intron 12 substituted a C for T resulting in skipping of exon 12, intruduction of a novel stop codon, and protein truncation from 458 to 406 amino acids. The predicted protein lacks the last two transmembrane domains and produces an extracellular C-terminus. (J:237184)
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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References Literature
Title
PMID
Journal
Year
IF
