This mutation comprises deletion of exon 16, predicted to cause in-frame splicing of exon 15 to exon 17, resulting in deletion of 52 amino acids from Pro359 through Phe410. (J:125551)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C3H x 101)F1
Spontaneous
Intragenic deletion
Recessive
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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