Mice homozygous for the wan mutation are extremely pale at birth with very reduced red blood cell, hematocrit, and hemoglobin counts, and die by 72 hours after birth. At embryonic day 15 fetal red blood cell counts are decreased, there are fewer than normal reticulocytes and a considerable number of spherocytes. Newborns have spherocytic red blood cells but no reticulocytes in peripheral blood.
The wan mutation arose spontaneously in the strain C3H/HeJ-Lmx1a
|Gene Symbol and Name||Slc4a1, solute carrier family 4 (anion exchanger), member 1|
|Strain of Origin||C3H/HeJ|
|General Note||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.|
|Molecular Note||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.|