Southern blot analyses using cDNA probes from the pink-eyed dilution locus show that this allele comprises a 5' rearrrangement in the p gene. An intergenic deletion of 960-bp near the carboxy terminus of Herc2 deletes a stretch of 320 amino acids from the predicted protein, including the HECT domain. The overall deletion for this p-region mutant is ~8.0-kb. (J:2206, J:49046)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Radiation induced
Intergenic deletion
Recessive
1
7
7

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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