Genomic PCR and DNA sequencing analysis showed the mutation is a deletion that spans the region from 11.1-kb upstream of the initiator methionine to intron 2. Northern and RT-PCR analysis demonstrated that no wild-type transcript could be detected in the mutant animals. Western blot analysis of homozygous mutant melanocytes showed that it also is not expressed at the protein level. (J:94728)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
STOCK a Myo5ad Hephl1cw
Spontaneous
Intragenic deletion
Semidominant
1
--
11

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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