Log In|Sign Up
EN
This heritable phenotypic marker arose spontaneously at The Jackson Laboratory. A 573-bp insertion of an ERV3 retrotransposon element in intron 4 interferes with normal splicing of one of the neural-specific transcripts of the gene. This mutation represses the normal expression of the predominant (V7) isoform in cerebellum without affecting transcription of two longer mRNAs (X2 and X4). (J:344350)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
