PCR amplification and sequencing of cDNA and genomic DNA products from mutants revealed a T to A transversion in the splice donor site immediately following exon 17 that causes the deletion of that exon in all alternatively spliced forms of the mRNA. For each transcript isoform detected, the absence of exon 17 from the mRNA creates a frameshift in the ORF 3' of the missing exon, thereby allowing the incorporation of a few aberrant codons and a premature stop codon. The largest aberrant mRNA isoform is predicted to encode a protein that is truncated at residue 559. (J:84426)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cRl
Chemically induced
Single point
Recessive
1
2
4

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

References Literature

Title
PMID
Journal
Year
IF
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