An ENU-induced G to A transition at the first nucleotide of the fifth intron disrupts the mRNA splice donor sequence resulting in production of two aberrantly spliced transcripts that shift the translation reading frame and lead to premature termination codons truncating the protein either immediately before or after the first of the three transmembrane domains. Immunoblot analysis of activated T-cell lysates from homozygous mutant mice using a monoclonal antibody to an N-terminal peptide of the protein verified the absence of the ~27 kD wild-type protein and detected only trace levels of a ~20 kDa protein corresponding to the larger abnormally spliced mRNA encoding through the first transmembrane segment. (J:188722, J:206813)

Basic Information

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