Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol: Hps1ep Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale-ear MGI ID: MGI:1856712 Synonyms: ep Gene: Hps1  Location: Chr19:42743544-42768417 bp, - strand  Genetic Position: Chr19, 36.56 cM Alliance: Hps1ep page

Wild-type and Hps1ep/Hps1ep littermates Show the 2 phenotype image(s) involving this allele.

Strain of Origin:

C3HeB/FeJ

Allele Type:    Spontaneous Mutation:    Transposon insertion   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) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

10 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Hps1 Mutation:	35 strains or lines available

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:	48 reference(s)