An Hprt mini gene replaced a portion of exon 4 and all of exons 5 and 6. While translation of the targeted allele may be possible, in which case a truncated protein lacking all but 161 of the 637 amino acids would be produced, Western blot analysis showed protein levels to be decreased by approximately 50% in heterozygous mice. An assay of endogenous enzyme activity correspondingly showed an approximate 50% reduction in hepatic tissue obtained from heterozygotes. (J:66499)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
4
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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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