ENU induced a T-to-G mutation 13 bases upstream of exon 19. RT-PCR and sequencing analysis showed the inclusion of 29 bases of intronic sequence in the mutant transcript, owing to the use of an alternative the acceptor site. The inclusion of the additional bases should cause a frameshift mutation and multiple premature stop codons. Semi-quantitative RT-PCR analysis showed that the mutant mRNA was less abundant compared to wild-type mRNA. Immunoblot analysis failed to detect protein in brain lysates from homozygous mutants. (J:205043)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/c x C57BL/6
Chemically induced
Single point
--
1
--
5

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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