Slc4a1^wan
Spontaneous Allele Detail

Summary

• Symbol: Slc4a1^wan
• Name: solute carrier family 4 (anion exchanger), member 1; wan
• MGI ID: MGI:1857347
• Synonyms: wan
• Gene: Slc4a1 Location: Chr11:102239646-102256107 bp, - strand Genetic Position: Chr11, 66.29 cM, cytoband D
• Alliance: Slc4a1^wan page

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:85321)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc4a1 Mutation: 52 strains or lines available

Notes

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.

References

• Original: J:85321 Peters LL, Failure of effective reticulocytosis in a new spontaneous band 3 deficient mouse strain (C3H/HeJ-wan) and in a subset of targeted band 3 null mice (B6,129 AE1-/-) suggests the presence of genetic modifiers of band 3 function in red blood cells. Blood. 1998;92(Suppl 1):301 (Abstr.)
• All: 3 reference(s)