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A point mutant construct with a floxed neo cassette created a 1-base deletion causing a frameshift and premature stop codon in the last exon upstream of a conserved 10 to 15 amino acid C-terminal sequence. Western blot analysis confirmed reduced expression of a truncated protein in heterozygous mice. (J:192154)
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
