Male C57BL/6 mice were treated with ENU and subsequent generations screened for reduced expression of H2-A (mouse MHC-II) protein on the surface of peripheral blood lymphocytes (PBLs), resulting in the identification of this allele. The point mutation of the conserved A at position 408 of intron 2 branch site to T leads to aberrant splicing, resulting in reduced expression of H-2A mRNA and protein to around 12% of wildtype levels. In addition to reduced level of wildtype H-2A mRNA, the A-to-T branch site point mutation causes the formation of two aberrant mRNAs species, one of which is spliced using a cryptic splice acceptor in intron 2, while the other results from intron 2 read-through. Both of these aberrant mRNA species encode non-functional premature terminated H-2A protein. (J:244717)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Single point
--
1
3
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

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PMID
Journal
Year
IF
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