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An ETn II element is inserted in opposite orientation into the longest exon of the gene (exon 6) and is flanked by a target site duplication (GTATCG). This mutation eliminates the expression of the long isoform of the transcript. The short transcript is unaffected. This mutation is present in C57BL/6J and C57BR/cdJ and not in SELH or ICR mice. (J:78171)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
