| Primary Identifier | MGI:1856476 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Hephl1 |
| Inheritance Mode | Recessive | Strain of Origin | CBA/Cbi |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
