Slc4a1<wan> Spontaneous Allele Detail MGI Mouse (MGI:1857347)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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:	54 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)

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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