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Hps1ep-7J
Spontaneous Allele Detail
Nomenclature
Symbol: Hps1ep-7J
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale ear 7 Jackson
MGI ID: MGI:5500910
Gene: Hps1  Location: Chr19:42755191-42779996 bp, - strand  Genetic Position: Chr19, 36.56 cM
Diluted coat color in Hps1ep-7J/Hps1ep-7J mice (right) compared with CAST/EiJ control (left)

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

Mutation
origin
Strain of Origin:  CAST/EiJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA spontaneous single nucleotide C to A transversion at Chromosome 19 position 42,778,139 (GRCm38) is predicted to cause a premature stop codon at residue 34 of the 704 amino acid protein. (J:198843, J:222308)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hps1 Mutation:  9 strains or lines available
References
Original:  J:198843 Harris BS, et al., pale ear 7 Jackson, a spontaneous mutation in Hps1 arising on the CAST/EiJ background. MGI Direct Data Submission. 2013;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/05/2019
MGI 6.13
The Jackson Laboratory