ENU mutagenesis induced a point mutation (T to A chr 11: 96973058) in the second intron altering the splice acceptor site and thereby preventing normal splicing. This mutation deletes 8 amino acids from the final peptide. Activated splenocytes exhibit a 3- to 4-fold decrease in protein expression compared with similarly treated wild-type cells. (J:154069)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Single point
Recessive
1
2
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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