CRISPR/cas9 endonuclease-mediated genome editing is used to target close to the start codon of isoform I and III. The founder contains a 1 nucleotide deletion at the beginning of the open reading frame resulting in a frame shift at residue 33 that produces a stop codon at amino acid 40. Western blot confirms the loss of isoform I. It is not clear if isoforms II and III are affected. (J:240578)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x FVB/N)F1
Endonuclease-mediated
Intragenic deletion
--
1
6
2

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

References Literature

Title
PMID
Journal
Year
IF
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