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The amino acid substitution of a valine for an aspartic acid at position 149 (p.Val194Asp) was inserted into exon 2 through nucleotide substitution (GTG to GAT). A floxed neo cassette used as a selectable marker was removed by cre-mediated recombination using the pIC-Cre vector transfected into ES cells. This mutation is equivalent to a human disease causing mutation ioin the A-domain. Correct insertion of the mutation was confirmed by sequencing. (J:125104)
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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References Literature
Title
PMID
Journal
Year
IF
