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EN
Nucleotide substitution within exon 2 resulted in the amino acid substitution of threonine for serine at position 124 (S124T), phenylalanine for leucine at position 125 (L125F), arginine for lysine at position 127 (L127R), and glutamine for asparagine at position 128 (N128Q). These mutations prevent cleavage of the protein to produce the soluble form. The floxed neo cassette used for selection was removed by cre-mediated recombination. (J:171440)
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
