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Hps4le
Spontaneous Allele Detail
Nomenclature
Symbol: Hps4le
Name: Hermansky-Pudlak syndrome 4 homolog (human); light-ear
MGI ID: MGI:1856931
Synonyms: le, light-ear
Gene: Hps4  Location: Chr5:112343083-112378414 bp, + strand  Genetic Position: Chr5, 54.69 cM
Mutation
origin
Strain of Origin:  C3H/HeJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe underlying mutation responsible for the phenotype in the light ear mouse was identified as a C to T substitution that resulted in a nonsense mutation, Gly50stop. The absence of protein in homozygous mutant animals was demonstrated through immunoblot analysis. (J:75144)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Hps4 Mutation:  6 strains or lines available
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:  21 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
02/25/2015
MGI 5.21
The Jackson Laboratory