Primary Identifier | MGI:1857042 | Allele Type | Radiation induced |
Gene | Heph | Inheritance Mode | Recessive |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
molecularNote | The mutation in the sla mouse is thought to be a 3.5 kb deletion with breakpoints distal to exon 9 and proximal to exon 12. RT-PCR analysis of mRNA derived from intestine of homozygous mice confirmed that 582 nt of sequence was absent, and predicts an in-frame omission of 194 aa from the encoded protein. Northern blot analysis confirmed that a smaller message was made in homozygous mice. Immunohistochemistry of homozygotes detects HEPH staining only in the supreanuclear compartment of intestinal enterocgyes. |