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Hps1ep
Spontaneous Allele Detail
Nomenclature
Symbol: Hps1ep
Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale-ear
MGI ID: MGI:1856712
Synonyms: ep
Gene: Hps1  Location: Chr19:42755105-42779978 bp, - strand  Genetic Position: Chr19, 36.56 cM
Wild-type and Hps1ep/Hps1ep littermates

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Transposon insertion
 
Mutation detailsThe 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)
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: 12 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 7 strains available      Cell Lines: 0 lines available
Carrying any Hps1 Mutation:  9 strains or lines available
Notes
Genbank ID for mutant allele: AF003867
References
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
All:  39 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
10/09/2018
MGI 6.12
The Jackson Laboratory