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A spontaneous mutation results in the G to A transition in intron 14 (IVS14+5G>A) that results in the production of two truncated transcripts that skip exon 14 or exons 13+14 causing frame shifts and premature stop codons (Glu467fsX474 and Phe441fsX456). (J:171265)
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
