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An A to C transversion in exon 10 causes an aspartic acid to alanine amino acid residue change at codon 400. A floxed fragment containing the SV40 splice/polyadenylation signal as well as a neomycin resistance cassette was inserted in intron 10. Western blot analysis of extracts prepared from E12.5 heterozygous whole embryos confirmed that protein product was reduced by about half. (J:144992)
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
