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Exon 5 was replaced with one in which nucleotide substitutions result in the amino acid substitutions of alanine for leucine at positions 131 and 132 (L131A, L132A). A floxed hygro cassete inserted upstream of the modified exon 5 was removed by germ line, cre mediated recombination. The substitutions occur within the di-leucine motif. (J:142387)
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
