This phenotypic mutant was identified in an ENU mutagenesis screen. An insertion of a cytosine occurred between nucleotides 16 and 17 of the second exon. This is predicted to cause a frameshift mutation from amino acid 6 and translation of a theoretical new peptide of 173 amino acids with a premature stop codon in exon 4. Because Ltb and Tnf are found in nearby genomic locations, their sequence and expression were analyzed and found to be normal. Intra-cell flow cytometry failed to detect any Lta expression in activated B-cells.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Insertion
Recessive
1
3
2

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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