CRISPR/cas9 mediated recombination created a 246 bp deletion around exon 3, including 88bp from exon 3 and 12bp from exon 4 resulting in an in-frame mutation and premature stop codon at the 85th amino acid. This is predicted to disrupt only the transmembrane isoform. RT-PCR analysis confirmed the absence of the transmembrane form and presence of the secreted form. (J:287619)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6NJcl x DBA/2NJcl)F2
Endonuclease-mediated
Intragenic deletion
--
1
1
1

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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