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Mcoln3Va
Spontaneous Allele Detail
Nomenclature
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
Krt25Re/Krt25Re Mcoln3Va/Mcoln3Va

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

Mutation
origin
Strain of Origin:  (C57BL x C57BR)F1
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 11 anatomical structures
Find Mice (IMSR)
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:  20 strains or lines available
References
Original:  J:13133 Cloudman AM, et al., The varitint-waddler mouse. A dominant mutation in Mus musculus. J Hered. 1945;36:258-263
All:  14 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory