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The spp mutation corresponds to an A to T transversion in the donor splice site of intron 5 (GTAAGT -> GTTAGT; position 19359 in the Genbank genomic region NC_000079). It is predicted to result in skipping of the 133-nucleotide 5th exon (of 10 total exons), shifting the reading frame so aberrant amino acids are encoded after aa position 74 and creating a premature stop codon that would terminate the protein after aa 76. (J:133620)
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
