Allele/Variant

Slc3a1m1Crl

Species
Mus musculus
Symbol
Slc3a1m1Crl
Category
allele
Allele of gene
Slc3a1
Transgenic Constructs
None
Synonyms
None
Description
A spontaneous G-to-A point mutation in exon 7 results in the amino acid substitution of glutamic acid with lysine at position 383 (p.E383K). This mutation is not present in 129S1/Sv or 129S2/SvPas mice. Western blot analysis confirmed the absence of protein expression in the kidney cortex.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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