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The locus contains a murine endogenous retroviral insertion (ERVK) in exon 3, with intact LTR sequences at both ends and a duplicated GGCGGC hexamer at the insertion site. The insertion is located after codon 142 of the ORF. The mutant transcript contains a normal N-terminal domain and a normal third motif, however, the fourth motif is truncated and would not be able to complete the C-terminal domain. RT-PCR confirmed expression of the mutant transcript. (J:63651, J:121863)
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：
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References Literature
Title
PMID
Journal
Year
IF
