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The spontaneous tpr mutation was identified at the University of Michigan. RT-PCR revealed that the sequences corresponding to exons 3 and 4 are absent in the encoded transcript. This results in a frame shift leading to premature termination at residue 91 in exon 5. PCR on genomic DNA confirmed that exons 3 and 4 are deleted in this mutant. The predicted truncated protein could not be detected immunologically. (J:84411)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
