Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Mcoln3Va-J
Name:	mucolipin 3; varitint waddler Jackson
MGI ID:	MGI:1856231
Synonyms:	VaJ
Gene:	Mcoln3  Location: Chr3:145823205-145847561 bp, + strand  Genetic Position: Chr3, 71.03 cM
Alliance:	Mcoln3Va-J page

Strain of Origin:

STOCK Mcoln3Va

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 Mcoln3Va-J allele, which arose on a strain segregating for the more severe Mcoln3Va allele, also has the G-to-C transversion at coding nucleotide 1255 (p.A419P) specific to the Mcoln3Va allele indicating that the Mcoln3Va-J allele contains an additional point mutation to the Mcoln3Va allele. The less severe phenotype of the Mcoln3Va-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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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

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