This 21 bp insertion in the 3' UTR of exon 5 contains a putative binding site for the U2 snRNP that alters splicing. The insertion has been identified in MOLF/Ei, PWK/Ei and SPRETUS/Ei but not Mus musculus domesticus strains such as C57BL/6 or in CAST/EI. Hepatocytes from Mus musculus molossinus primarily express the long isoform whereas C57BL/6 hepatocytes express the short isoform. (J:244556)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
multiple strains
Spontaneous
Insertion
--
1
--
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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