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A 955 bp deletion removes part of intron 2 and the splice acceptor site at the beginning of exon 3. This results in incorrect splicing and a premature stop codon leading to a truncated protein. The deletion overlaps with intron 10 of Slc5a10 on the opposite strand but does not affect splicing of that gene. (J:195478)
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
