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Sequencing revealed a large deletion extending from intron 11 through exon 12 and into the intergenic region, creating a new splice site and the replacement of exon 12 with exon 12'. 3' RACE revealed a new stop codon in exon 12' and predicted a modified and truncated protein carboxyl terminus. (J:100476)
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
