Hps1^ep-7J
Spontaneous Allele Detail

Summary

• Symbol: Hps1^ep-7J
• Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale ear 7 Jackson
• MGI ID: MGI:5500910
• Gene: Hps1 Location: Chr19:42743544-42768417 bp, - strand Genetic Position: Chr19, 36.56 cM
• Alliance: Hps1^ep-7J page

Diluted coat color in Hps1^ep-7J/Hps1^ep-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 details: A spontaneous single nucleotide C-to-A transversion at chromosome 19 position 42,778,139 (GRCm38) causes a premature stop codon from a glutamic acid codon at residue 34 (p.E34*) of the 704 amino acid protein. (J:198843, J:222308)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 35 strains or lines available

References

• Original: J:198843 Harris BS, et al., pale ear 7 Jackson, a spontaneous mutation in Hps1^{ep 7J} arising on the CAST/EiJ background. MGI Direct Data Submission. 2013
• All: 2 reference(s)