Sequencing of partial gp87 cDNA from homozygous mutant melanocytes showed this mutation comprises a G to A substitution at base 1808, resulting in a premature stop codon and truncation of the protein in the C-terminal cystolic domain. (J:22779, J:58687)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Spontaneous
Nucleotide substitutions
Recessive
1
--
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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