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A valine to alanine missense mutation in codon 408 (V408A, equivalent to that found in episodic ataxia type-1 (EA1) patients) was introduced via homologous recombination. A floxed neo cassette inserted in the 3' untranslated region was removed in vivo by cre mediated excision. (J:82778)
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
