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The targeting vector replaced exon 3 with a modified one with the mutation (c.386A to T) responsible to the amino acid substitution of aspartic acid with valine at position 129 (D129V). Cre-mediated recombination removed the selection cassette inserted downstream of exon 4. (J:282278)
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
