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Exons 4 through 9 were replaced with corresponding exons from the human gene with a sequence variant that results in the amino acid substitution of serine with alanine at position 46 (p.S46A). Cre-mediated recombination removed the Loxp site flanked neomycin resistance gene cassette inserted into intron 3. (J:191183)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
