This mutation was discovered in an ENU mutagenesis screen. It comprises a T-to-A transversion at nucleotide 93085 of the genomic sequence, within an intron, which results in the insertion of the 5-base pair sequence ATCAG following nucleotide 1791 of the mRNA. This in turn causes a translational frame shift, introducing 26 new amino acids before a premature termination codon. No CD45/PTPRC protein is visually detectable on Western blot analysis of mutant thymocytes, and expression of CD45 is reduced on CD19+ B cells of homozygous mutant mice.

Basic Information

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

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top