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A GG to TT substitution was found in exon 6 in a putative exonic splicing enhancer motif. As a result, the 109-bp sequence corresponding to exon 6 was deleted in mutant mice. This deletion creates a frameshift mutation resulting in premature termination at codon 225. Western blot analysis confirmed that no mature protein product was produced. (J:204898, J:222308)
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
