Mcoln3<Va> Spontaneous Allele Detail MGI Mouse (MGI:1856230)

Mcoln3^Va
Spontaneous Allele Detail

Summary

Symbol:	Mcoln3^Va
Name:	mucolipin 3; varitint waddler
MGI ID:	MGI:1856230
Synonyms:	TRPML3^Va, Va
Gene:	Mcoln3 Location: Chr3:145823205-145847561 bp, + strand Genetic Position: Chr3, 71.03 cM
Alliance:	Mcoln3^Va page

Krt25^Re/Krt25^Re Mcoln3^Va/Mcoln3^Va

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

Mutation
origin

Strain of Origin:

Mutation
description

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

Phenotypes

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

Expression

In Structures Affected by this Mutation:

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:	35 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(9):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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