Hps6<ru> Spontaneous Allele Detail MGI Mouse (MGI:1856544)

Hps6^ru
Spontaneous Allele Detail

Summary

Symbol:	Hps6^ru
Name:	HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; ruby-eye
MGI ID:	MGI:1856544
Synonyms:	ru
Gene:	Hps6 Location: Chr19:45991947-45994612 bp, + strand Genetic Position: Chr19, 38.75 cM
Alliance:	Hps6^ru page

Mutation
origin

Strain of Origin:

Danforth's Stock a Pmel^si Ednrb^s

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. (J:81444)
Inheritance:		Recessive

Phenotypes

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

Disease models

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Hps6 Mutation:	28 strains or lines available

References

Original:	J:13122 Dunn LC, A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A. 1945 Nov;31(11):343-6
All:	34 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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