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Insertion of thymidine at position 208 (position 166 from the ATG) results in a frameshift that creates a stop codon 13 amino acids downstream in exon 4. The mutation causes the loss of a BamHI restriction site and a defective protein. (J:26137, J:28799)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
