CRISPR/cas9 mediated recombination created a 12,068 bp deletion spanning from exon 1 to exon 4. This deletion removes amino acids 122-542 of the long isoform (variant 1) and amino acids 122-289 of the short isoform (variant 2). Western blot analysis confirmed the absence of expression in homozygous mice. (J:266136)

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

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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