ENU mutagenesis resulted in a nucleotide substitution of A to T at the end of intron 5 that reduces the effectiveness of the splice acceptor site and leads to the insertion of 57 bp at the beginning of exon 6. The inserted base pairs add 19 amino acids to the coded protein and produce an additional loop near the carboxyl terminus. (J:136138)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/El
Chemically induced
Single point
Dominant
1
8
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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