Hps1^ep
Spontaneous Allele Detail

Summary

• Symbol: Hps1^ep
• 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: Hps1^ep page

Wild-type and Hps1^ep/Hps1^ep 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 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

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• 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

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: 48 reference(s)