A spontaneous one base pair deletion in an intron that results in the deletion of some of the last intron and all of the last exon (2710 bp) but retention of the polyadenylation sequence. Western blot analysis confirmed reduced expression of a truncated protein. (J:193641)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Spontaneous
Intragenic deletion
Recessive
1
--
22

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

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PMID
Journal
Year
IF
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