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To recapitulate a mutation in the orthologous human gene that disrupts the inhibitory wedge, a glutamate to arginine substitution at codon 613 (E613R) was engineered in exon 18 and incorporated at the endogenous locus via homolgous recombination. A single loxP site remained in intron 18 after the floxed neo cassette was excised. (J:66501)
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
