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The targeting construct introduced a neomycin resistance cassette with FRT inserted into intron 51 and a modified exon 51 with the mouse mutation corresponding to the human disease associated mutation T7271G mutation. The resulting amino acid substitution corresponds to the human substitution from valine to glycine (V2424G). (J:104190)
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
