Genomic PCR demonstrated the absence of exon 3. This is an in frame deletion within the N-terminal LIVBP-like domain and leads to a 95 amino acid deletion. (J:84411)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
TR/DiEi-Atp7aMo-to
Spontaneous
Intragenic deletion
Recessive
1
1
1

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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