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This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. It failed to complement the existing mutation Slc4a1tm1Llp. The mutation was identified as an A-to-T transversion resulting in a missense mutation in the codon corresponding to amino acid 541. This conserved glutamic acid within the fifth transmembrane domain is changed to a valine in the encoded protein. (J:85113)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
