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CRISPR-targeting of exon 37 induces an indel mutation the results in a frameshift mimicking the human variant at amino acid 2608 (R2608fs), which causes a frameshift mutation in exon 37. The allele fails to produced the 440-kDa isoform but expresses a truncated 290-kDa polypeptide and normal levels of 220-kDa isoform. (J:277752)
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
