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| Nomenclature |
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Symbol:
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Hps1ep
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Name:
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Hermansky-Pudlak syndrome 1 homolog (human);
pale-ear
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MGI ID: |
MGI:1856712 |
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Synonyms: |
ep |
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Gene:
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Hps1
Location:
Chr19:42755105-42779978 bp, - strand
Genetic Position: Chr19,
36.56 cM
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Wild-type and Hps1ep/Hps1ep littermates
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C3HeB/FeJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Transposon insertion |
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Mutation details: The underlying mutation responsible for the phenotype in the pale ear mouse was identified as an insertion of an intracisternal A particle in a protein coding- 3' exon of the Hps1 gene. Northern analysis demonstrated qualitative differences in mRNA between wild-type and homozygous mutant animals. (J:42484)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Genbank ID for mutant allele: AF003867
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| References |
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Original: |
J:5032
Lane PW et al.,
"Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII."
J Hered 1967 Jan-Feb;58(1):17-20
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All: |
32 reference(s)
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Analysis Tools
