Mcoln3^Va-J

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Species

Mus musculus

Symbol

Mcoln3^Va-J

Category

allele

Allele of gene

Mcoln3

Transgenic Constructs

None

Synonyms

• Va^J

Description

This allele has a T-to-C transition at coding nucleotide 1085 within exon 8. This results in a change from isoleucine to threonine at amino acid 362 (p.I362T) in the second extracellular loop. The Mcoln3^Va-J allele, which arose on a strain segregating for the more severe Mcoln3^Va allele, also has the G-to-C transversion at coding nucleotide 1255 (p.A419P) specific to the Mcoln3^Va allele indicating that the Mcoln3^Va-J allele contains an additional point mutation to the Mcoln3^Va allele. The less severe phenotype of the Mcoln3^Va-J allele suggests that the T-to-C transition at nucleotide 1085 might mitigate the effects of the G-to-C mutation at nucleotide 1255 although the impact of genetic background must be considered. The encoded protein can be detected in the hair cells of heterozygous and homozygous mice.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations