| Primary Identifier | MGI:1856392 | Allele Type | Spontaneous |
| Gene | Edn3 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL-a<t> | Is Recombinase | false |
| Is Wild Type | false |
| description | Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed. Other alleles of this gene serve as models for WAARDENBURG-SHAH SYNDROME. This allele was not studied in this context. |
| molecularNote | RT-PCR analysis of this allele revealed a missense C-to-T change at coding nucleotide 409, which results in a substitution of the Arg-137 residue with a Trp residue (p.R137W). |
