|
|
| Nomenclature |
|
Symbol:
|
Hps6ru
|
|
Name:
|
Hermansky-Pudlak syndrome 6;
ruby-eye
|
|
MGI ID: |
MGI:1856544 |
|
Synonyms: |
ru |
|
Gene:
|
Hps6
Location:
Chr19:46003478-46006173 bp, + strand
Genetic Position: Chr19,
38.75 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
Danforth's Stock a Pmelsi Ednrbs
|
|
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 for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
26 reference(s)
|
|
Analysis Tools
