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

Symbol: Mcoln3Va Name: mucolipin 3; varitint waddler MGI ID: MGI:1856230 Synonyms: TRPML3Va, Va Gene: Mcoln3  Location: Chr3:145823205-145847561 bp, + strand  Genetic Position: Chr3, 71.03 cM Alliance: Mcoln3Va page

Krt25Re/Krt25Re Mcoln3Va/Mcoln3Va Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

(C57BL x C57BR)F1

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: The mutation in the Va mouse is a G-to-C transversion at coding nucleotide 1255 within exon 10. This results in a change from alanine to proline at amino acid 419 (p.A419P> which is in the fifth transmembrane domain. (J:80336) Inheritance:    Semidominant

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

In Structures Affected by this Mutation:

10 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Mcoln3 Mutation:	35 strains or lines available

Original:	J:13133 Cloudman AM, et al., The varitint-waddler mouse. A dominant mutation in Mus musculus. J Hered. 1945;36(9):258-263
All:	14 reference(s)