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The targeting vector inserted uptream of the endogenous exon 10 a floxed neomycin resistance cassette. The targeting vector also inserted downstream of the endogenous exon 10 a loxP site, 48 nucleotide spacer sequence and a modified exon 10 with nucleotide substitutions (AAC to CAG). The substitutions results in the amino acid substitution of glutamine for asparagine at position 595 (N595Q). Cre-mediated recombination removed the selection cassette and left the endogenous exon 10 floxed. (J:232063)
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
