This mutation comprises a paracentric inversion with deletions of 20 and 18 bp from the proximal and distal breakpoints, respectively. A probe from the agouti locus that differentiates polymorphisms between C3H/HeH and 101/H was used to show that the mutation arose on C3H/HeH. The mutating event affected the regulation of agouti, down regulating the expression of pheomelanin. The distal breakpoint is in the intron between exons 1 and 2 of the Itch gene and is responsible for an immunological defect. (J:24934, J:45910)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeH
Chemically and radiation induced
Inversion
Recessive
1
1
26

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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