|
|
| Nomenclature |
|
Symbol:
|
Hps5ru2-hz
|
|
Name:
|
Hermansky-Pudlak syndrome 5 homolog (human);
haze
|
|
MGI ID: |
MGI:1856145 |
|
Synonyms: |
hz, ru-2hz, ru2hz |
|
Gene:
|
Hps5
Location:
Chr7:46760466-46796064 bp, - strand
Genetic Position: Chr7,
30.56 cM
|
|
Mutation
origin |
|
Mutation
description |
|
Allele
Type: | |
Spontaneous |
|
Mutation: | |
Insertion |
| |
|
Mutation details: This allele was initially shown to be allelic to Hps5ru2 and Hps5ru2-mr by complementation testing. The insertion of CCGG in codon 900 was identified by sequence analysis and putatively results in a frameshift mutation that precludes the translation of 118 carboxy terminal amino acids. (J:13708, 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)
|
|
Notes |
Shown to be an allele of the maroon mutation and later both were shown to be alleles of ru2.
|
| References |
|
Analysis Tools
