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A premature stop codon (CAG to TAG) at amino acid residue E1099 (E1099X) was introduced into the linker between domains 2 and 3. The loxP flanked neo cassette downstream of the mutation was removed via cre-mediated recombination. Western blot analysis indicates that global protein expression is reduced to 54.1% in heterozygotes and is undetectable in homozygotes, indicating a null allele. (J:221045)
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
