This phenotypic allele has been attributed to In(5)6H, a 30 cM inversion in the proximal third of chromosome 5. The proximal breakpoint (In(5)6H-p) has been localized between codons 495 and 496 of Dpp6. Dpp6 mRNA was undetected in mutant mice by Northern blot analysis. Complementation analysis indicates that the recessive embryonic lethality attributed to the inversion results from a proximal region, and it had been suggested that the disrupted Dpp6 locus was responsible. However, additional deletions of the Dpp6 gene complement the rump white phenotype and these data suggest that Dpp6 is not required for viability. An additional locus, termed Qdpr is suggested to be the locus responsible for the lethal phenotype. (J:100332). The distal breakpoint (In(5)6H-d) has been localized between Pdgfra and Kit using FISH and pulsed field gel electrophoresis (PFGE). While the distal breakpoint does not disrupt the coding sequence of any known gene, it putatively has a long range effect on the expression of Kit, resulting in depigmentation of the scarolumbar region. (J:18646, J:19442, J:50926, J:100332)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C3H/HeH x 101/H)F1
Radiation induced
Inversion
Semidominant
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12

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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