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)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count