Mcoln3^Va-J
Spontaneous Allele Detail

Summary

• Symbol: Mcoln3^Va-J
• Name: mucolipin 3; varitint waddler Jackson
• MGI ID: MGI:1856231
• Synonyms: Va^J
• Gene: Mcoln3 Location: Chr3:145823205-145847561 bp, + strand Genetic Position: Chr3, 71.03 cM
• Alliance: Mcoln3^Va-J page

Mutation origin

• Strain of Origin: STOCK Mcoln3^Va

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:80336)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Mcoln3 Mutation: 35 strains or lines available

Notes

This mutation was found in a linkage cross involving Mcoln3^Va, and probably arose by mutation from Mcoln3^Va. (J:5286)

References

• Original: J:64107 Lane PW, Va^J - varitint-waddler-Jackson. Mouse News Lett. 1969;41:32
• All: 11 reference(s)