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Spontaneous Allele Detail
Symbol: Slc4a1wan
Name: solute carrier family 4 (anion exchanger), member 1; wan
MGI ID: MGI:1857347
Synonyms: wan
Gene: Slc4a1  Location: Chr11:102348820-102365281 bp, - strand  Genetic Position: Chr11, 66.29 cM, cytoband D
Strain of Origin:  C3H/HeJ
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThe 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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
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:  5 strains or lines available
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.
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
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
The Jackson Laboratory