ENU-induced A to G transition at base pair 128,267,505 (v38) on chromosome 7, or base pair 1,809 in the GenBank genomic region NC_000073 within the donor splice site of intron 4. The effect of the mutation at the cDNA and protein levels has not been examined. The mutation may result in skipping of the 165-base pair exon 4, which would result in an in-frame deletion of amino acids 100 to 154 in the SGLT2 protein, which is normally 670 amino acids long. (J:265117)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
--

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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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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