Hephl1^cw

This spontaneous A to G point substitution at Chr9:15076948 (GRCm38.p6) in the splice acceptor 2 base pairs upstream of exon 11 results in 2 variant transcripts assessed as cDNA from heterozygous skin, of which the 581 bp variant has an early stop codon and is likely to be eliminated by nonsense-mediated decay, and the 397 bp variant is predicted to be stable but is found in lower abundance than the 606 bp wild type transcript. (J:276072)