| Primary Identifier | MGI:1856850 | Allele Type | Spontaneous |
| Gene | Ggt1 | Inheritance Mode | Recessive |
| Strain of Origin | (STOCK Pou1f1<dw> x T(8;16)17H)F1 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | A 13 bp deletion (GATGCGACCCTGT) is present in exon 7. RT-PCR analysis detected 4 different transcripts in homozygous mice, the expected 13 bp deletion (type 1), a 75 bp deleted version that includes the 13 bp deletion (type 2), a version lacking all of exon 3 (type 3) and a version lacking exons 3 and 4 (type 4) both also having the 13 bp deletion in exon 7. Some clones of types 1, 3 , and 4 also include partial or complete retention of introns 9 or 10. The type 1, 3, and 4 transcripts are predicted to result in a frameshift and premature termination at amino acid residue 281, 57 , and 63, respectively. The type 2 transcript is predicted to create a 25 amino acid deletion spanning residues 270 - 294. |
