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EN
The mutation in the sph-BC mouse was identified as a G-to-T in transversion in the first nucleotide of intron 41. This mutation eliminates exon 41 splice donor site G-GT by changing it to G-TT. This causes a splicing defect that results in the skipping of exon 41 causing the deletion of 54 amino acids as well as a frameshift and a premature stop codon. (J:81125)
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
