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EN
ENU mutagenesis induced a T to A transversion in exon 4 that results in the amino acid substitution of asparagine for isoleucine at position 604 (I604N). This mutation, located in the extracellular KL2 domain, is predicted to impair protein stability; in vitro expression analysis in COS-7 cells revealed endoplasmic reticulum retention of the mutant protein. (J:229255)
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
