Mice carrying Tg(Hba1-Gfp)1Ew were treated with ENU. A single base pair, T to C mutation, was detected in intron 1 at the a canonical splice site for exon 1/intron 1. Both the wild-type and a higher molecular weight mutant PCR product are detected in heterozygous mice. The aberrant splice product results in the incorporation of an additional 1,160 nucleotides. The resulting protein is predicted to incorporate 79 additional amino acids followed by a premature stop codon and be subject to nonsense mediated decay. Western blot analysis of testis lysates from heterozygous mice revealed reduced protein expression. (J:99816, J:216844)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/N
Chemically induced
Single point
Semidominant
1
--
3

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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