Owing to a genomic deletion (chromosome 18: 58,012,626-58,014,322 GRCm38) that includes exon 63, transcripts from this allele lack exon 63 (of 65 total exons), and improperly splice exon 62 to exon 64, which leads to a frameshift and premature termination. (J:263533)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Spontaneous
Intragenic deletion
--
1
4
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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