| Primary Identifier | MGI:1857347 | Allele Type | Spontaneous |
| Gene | Slc4a1 | Inheritance Mode | Recessive |
| Strain of Origin | C3H/HeJ | Is Recombinase | false |
| Is Wild Type | false |
| description | J02756 is a genomic clone but nucleotide 3998 is an A, not a C. Amino-acid 45 is glutamic acid (E), which can't change to a stop codon with C>T (it requires G>T). C>T substitution creating a stop codon requires a glutamine (Q) or arginine (R) codon. Even taking into account the 3 amino-acid longer N-terminus of the current peptide SW:P04919, position 48 (position 45 in the translation of J02756) is a proline, which can't change to a stop codon with a single point mutation. |
| molecularNote | The wan mutation was shown to be a C-to-T transition in nucleotide 3998 (genomic clone J02756) that results in a premature stop codon at amino acid 45. |
